LOVD - Variant listings for SCN9A

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?/? SCN9A_00008 c.174G>A
    + 10 others
Exon p.(Gln58=) N-terminus 2 - Drenth et al, J Invest Dermatol 124:1333, 2005 - - - - 1 primary erythermalgia (OMIM133020) pharmacoresistant bilateral redness and pain in extremities triggered by warmth or exercises, relief by rest or cooling; no other pathologies that could trigger symptoms secondarily - {OMIM133020}, United States:Sacramento - - - 1 United States Caucasian Male - -
?/? SCN9A_00012 c.184A>G
    + 49 others
Exon p.(Ile62Val) N-terminus 2 - Singh et al, PLOS Genetics 5(9):1, 2009 - n.a. - - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00009 c.444A>G
    + 10 others
Exon p.(Pro148=) D1/S1-S2ex 2 - Drenth et al, J Invest Dermatol 124:1333, 2005 - - P148P - 1 primary erythermalgia (OMIM133020) pharmacoresistant bilateral redness and pain in extremities triggered by warmth or exercises, relief by rest or cooling; no other pathologies that could trigger symptoms secondarily - {OMIM133020}, United States:Sacramento - - - 1 United States Caucasian Male - -
?/? SCN9A_00001 c.377+94A>G
    + 10 others
Intron p.(=) - 3i - Lossin, unpublished data - - - SEQ - 1 primary erythermalgia (OMIM133020) pharmacoresistant bilateral redness and pain in extremities triggered by warmth or exercises, relief by rest or cooling; no other pathologies that could trigger symptoms secondarily - {OMIM133020}, United States:Sacramento - - - 1 United States Caucasian Male - -
?/? SCN9A_00002 c.378-90T>A
    + 10 others
Intron p.(=) - 3i - Lossin, unpublished data - - - SEQ - 1 primary erythermalgia (OMIM133020) pharmacoresistant bilateral redness and pain in extremities triggered by warmth or exercises, relief by rest or cooling; no other pathologies that could trigger symptoms secondarily - {OMIM133020}, United States:Sacramento - - - 1 United States Caucasian Male - -
?/? SCN9A_00013 c.406A>G
    + 49 others
Exon p.(Ile136Val) D1/S1 4 - Cheng et al, Mol Pain 4:1, 2008 - - - - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00014 c.446C>A
    + 49 others
Exon p.(Pro149Gln) D1/S1-S2ex 4 - Singh et al, PLOS Genetics 5(9):1, 2009 - n.a. - - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00074 c.554G>A Exon p.(Arg185His) D1/S2-S3in 5 - dbSNP-rs73969684 - - - SEQ - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00003 c.596+25C>T
    + 10 others
Intron p.(=) - 5i - Lossin, unpublished data - - - SEQ - 1 primary erythermalgia (OMIM133020) pharmacoresistant bilateral redness and pain in extremities triggered by warmth or exercises, relief by rest or cooling; no other pathologies that could trigger symptoms secondarily - {OMIM133020}, United States:Sacramento - - - 1 United States Caucasian Male - -
?/? SCN9A_00015 c.601T>G
    + 49 others
Exon p.(Leu201Val) D1/S3 6 - Hisama et al, SCN9A-Related Inherited Erythromelalgia, in: Pagon et al (eds), Gene Reviews, Seatle - Washington, 2006. - - - - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00016 c.616A>G
    + 49 others
Exon p.(Asn206Asp) D1/S3-S4ex 6 - Hisama et al, SCN9A-Related Inherited Erythromelalgia, in: Pagon et al (eds), Gene Reviews, Seatle - Washington, 2006. - - - - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00017 c.647T>C
    + 49 others
Exon p.(Phe216Ser) D1/S4 6 - Drenth et al, J Invest Dermatol 124:1333, 2005 - - - - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00018 c.684C>G
    + 49 others
Exon p.(Ile228Met) D1/S4 6 - Singh et al, PLOS Genetics 5(9):1, 2009 - maternal - - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00004 c.689-217A>G
    + 10 others
Intron p.(=) - 6i - Lossin, unpublished data - - - SEQ - 1 primary erythermalgia (OMIM133020) pharmacoresistant bilateral redness and pain in extremities triggered by warmth or exercises, relief by rest or cooling; no other pathologies that could trigger symptoms secondarily - {OMIM133020}, United States:Sacramento - - - 1 United States Caucasian Male - -
?/? SCN9A_00019 c.721T>A
    + 49 others
Exon p.(Ser241Thr) D1/S4-S5in 7 - Lampert et al, J Biol Chem 281:36029, 2006 - - - - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00020 c.774_775delGT
    + 49 others
Exon p.(Val258Valfs*16) D1/S5 7 - Nilsen et al, Pain 145:264, 2009 - - ? - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00021 c.829C>T
    + 49 others
Exon p.(Arg277*) P1 7 - Goldberg et al, J Clin Invest 71:311, 2007 - - - - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00011 c.2794A>C Exon p.(Met932Leu) P2 8 - dbSNP-rs12478318 - - - - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00022 c.984C>A
    + 49 others
Exon p.(Tyr328*) P1 9 - Goldberg et al, J Clin Invest 71:311, 2007 - - - - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00023 c.1119T>C
    + 49 others
Exon p.(=) P1 10 - Drenth et al, J Invest Dermatol 124:1333, 2005dbSNP-rs13414203 - - A373A - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00075 c.1155G>T Exon p.(Val385=) D1/S6 10 - dbSNP-rs58465962 - - - SEQ - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00024 c.1185C>A
    + 49 others
Exon p.(Asn395Lys) D1/S6 10 - Drenth et al, J Invest Dermatol 124:1333, 2005 - - N395K - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00025 c.1266A>G
    + 49 others
Exon p.(=) L1 10 - Drenth et al, J Invest Dermatol 124:1333, 2005dbSNP-rs13402180 - - E422E - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00026 c.1287T>A
    + 49 others
Exon p.(=) L1 10 - Drenth et al, J Invest Dermatol 124:1333, 2005dbSNP-rs6747673 - - R429R - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00027 c.1376C>G
    + 49 others
Exon p.(Ser459*) L1 11 - Cox et al, Nature 444:894, 2006 - - S459X - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00028 c.1469G>A
    + 49 others
Exon p.(Ser490Asn) L1 11 - Singh et al, PLOS Genetics 5(9):1, 2009 - n.a. - - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00029 c.1555G>A
    + 49 others
Exon p.(Glu519Lys) L1 11 - Singh et al, PLOS Genetics 5(9):1, 2009 - maternal - - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00030 c.1828C>A
    + 49 others
Exon p.(Pro610Thr) L1 12 - Drenth et al, J Invest Dermatol 124:1333, 2005 - - - - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00031 c.1846G>A
    + 49 others
Exon p.(Gly616Arg) L1 12 - Choi et al, Brain 133:1823, 2010 - - - - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00032 c.1921A>T
    + 49 others
Exon p.(Asn641Tyr) L1 12 - Singh et al, PLOS Genetics 5(9):1, 2009 - ad - - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00033 c.1964A>G
    + 49 others
Exon p.(Lys655Arg) L1 13 - Singh et al, PLOS Genetics 5(9):1, 2009 - n.a. - - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00034 c.1964A>G
    + 49 others
Exon p.(Lys655Arg) L1 13 - Singh et al, PLOS Genetics 5(9):1, 2009 - paternal - - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00035 c.2052A>G
    + 49 others
Exon p.(Ile684Met) L1 13 - Singh et al, PLOS Genetics 5(9):1, 2009 - maternal - - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00005 c.2072-15G>A
    + 10 others
Intron p.(=) - 13i - Lossin, unpublished data - - - SEQ - 1 primary erythermalgia (OMIM133020) pharmacoresistant bilateral redness and pain in extremities triggered by warmth or exercises, relief by rest or cooling; no other pathologies that could trigger symptoms secondarily - {OMIM133020}, United States:Sacramento - - - 1 United States Caucasian Male - -
?/? SCN9A_00073 c.2076_2077insT Exon p.(Leu692Leufs*2) L1 14 - Goldberg et al, J Clin Invest 71:311, 2007 - - - SEQ - 5 n/a - - United States:Sacramento - - - 1 United States - - - -
?/? SCN9A_00036 c.2096G>A
    + 49 others
Exon p.(Cys699Tyr) L1 14 - Singh et al, PLOS Genetics 5(9):1, 2009 - paternal - - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00037 c.2215A>G
    + 49 others
Exon p.(Ile739Val) D2/S1 14 - Singh et al, PLOS Genetics 5(9):1, 2009 - paternal - - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00038 c.2215A>G
    + 49 others
Exon p.(Ile739Val) D2/S1 14 - Singh et al, PLOS Genetics 5(9):1, 2009 - paternal - - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00039 c.2298delT
    + 49 others
Exon p.(Ala766Alafs*2) D2/S1-S2ex 14 - Cox et al, Nature 444:894, 2006 - - I767X - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00076 c.2428G>A Exon p.(Val810Met) D2/S3 15 - dbSNP-rs41268671 - - - SEQ - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00042 c.2468T>G
    + 49 others
Exon p.(Leu823Arg) D2/S3 15 - Hisama et al, SCN9A-Related Inherited Erythromelalgia, in: Pagon et al (eds), Gene Reviews, Seatle - Washington, 2006. - - - - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00043 c.2488C>T
    + 49 others
Exon p.(Arg830*) D2/S3-S4ex 16 - Nilsen et al, Pain 145:264, 2009 - - ? - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00044 c.2543T>C
    + 49 others
Exon p.(Ile848Thr) D2/S4 16 - Yang et al, J Med Genet 41:171, 2004 - de novo - - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00045 c.2572C>T
    + 49 others
Exon p.(Leu858Phe) D2/S4-S5in 16 - Drenth et al, J Invest Dermatol 124:1333, 2005 - - - - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00046 c.2573T>A
    + 49 others
Exon p.(Leu858His) D2/S4-S5in 16 - Yang et al, J Med Genet 41:171, 2004 - - - - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00047 c.2587G>C
    + 49 others
Exon p.(Ala863Pro) D2/S4-S5in 16 - Harty et al, J Neurosci 26:12566, 2006 - - - - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00048 c.2615T>G
    + 49 others
Exon p.(Val872Gly) D2/S5 16 - Choi et al, Exp Neurol 216:383, 2009 - - - - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00049 c.2691G>A
    + 49 others
Exon p.(Trp897*) P2 16 - Cox et al, Nature 444:894, 2006 - - W897X - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00083 c.2953_2954insG Exon p.(Lys985fs) L2 17 - dbSNP-rs34345596 - - - SEQ - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00053 c.2986C>T
    + 49 others
Exon p.(Arg996Cys) L2 17 - Fertleman et al, Neuron 52:767, 2006 - - - - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00082 c.3171_3172insC Exon p.(Lys1057fs) L2 17 - dbSNP-rs35797497 - - - SEQ - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00077 c.3329G>A Exon p.(Arg1110Gln) L2 18 - dbSNP-rs74401238 - - - SEQ - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00054 c.3369G>T
    + 49 others
Exon p.(Leu1123Phe) L2 18 - Singh et al, PLOS Genetics 5(9):1, 2009 - maternal - - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00055 c.3448C>T
    + 49 others
Exon p.(Arg1150Trp) L2 19 - Drenth et al, J Invest Dermatol 124:1333, 2005 - - - - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00078 c.3476T>C Exon p.(Ile1159Thr) L2 19 - dbSNP-rs73019664 - - - SEQ - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00056 c.3478G>C
    + 49 others
Exon p.(Glu1160Gln) L2 19 - Singh et al, PLOS Genetics 5(9):1, 2009 - maternal - - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00070 c.3600delT Exon p.(Phe1200Leufs*33) D3/S1 20 - Goldberg et al, J Clin Invest 71:311, 2007 - - - SEQ - 38 n/a - - United States:Sacramento - - - 1 Italy - - - -
?/? SCN9A_00079 c.3601G>T Exon p.(Glu1201*) D3/S1 20 - dbSNP-rs74333059 - - - SEQ - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00080 c.3642C>A Exon p.(Ile1214=) D3/S1-S2ex 20 - dbSNP-rs77144869 - - - SEQ - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00058 c.3703delATAGCATATGG
    + 49 others
Exon p.(Ile1235Leufs*2) D3/S2 20 - Cox et al, Nature 444:894, 2006 - - - - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00059 c.3799C>A
    + 49 others
Exon p.(Leu1267Ile) D3/S3 21 - Singh et al, PLOS Genetics 5(9):1, 2009 - n.a. - - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00060 c.3892G>T
    + 49 others
Exon p.(Val1298Phe) D3/S4 22 - Jarecki et al, J Physiol 586:4137, 2008 - - - - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00061 c.3895G>T
    + 49 others
Exon p.(Val1299Phe) D3/S4 22 - Jarecki et al, J Physiol 586:4137, 2008 - - - - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00062 c.4345T>G
    + 49 others
Exon p.(Phe1449Val) D3/S6 24 - Dib-Hajj et al, Brain 128:1847, 2005 - - - - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00006 c.4366-10_4366-7delGTTT
    + 10 others
Intron p.(?) - 24i - Lossin, unpublished data - - - SEQ - 1 primary erythermalgia (OMIM133020) pharmacoresistant bilateral redness and pain in extremities triggered by warmth or exercises, relief by rest or cooling; no other pathologies that could trigger symptoms secondarily - {OMIM133020}, United States:Sacramento - - - 1 United States Caucasian Male - -
?/? SCN9A_00063 c.4382T>C
    + 49 others
Exon p.(Ile1461Thr) L3 25 - Fertleman et al, Neuron 52:767, 2006 - - - - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00064 c.4391C>T
    + 49 others
Exon p.(Thr1464Ile) L3 25 - Fertleman et al, Neuron 52:767, 2006 - - - - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00071 c.4462C>T Exon p.(Arg1488*) L3 25 - Goldberg et al, J Clin Invest 71:311, 2007 - - - SEQ - 32 n/a - - United States:Sacramento - - - 1 United States - - - -
?/? SCN9A_00007 c.4741+16T>A
    + 10 others
Intron p.(=) - 26i - Lossin, unpublished data - - - SEQ - 1 primary erythermalgia (OMIM133020) pharmacoresistant bilateral redness and pain in extremities triggered by warmth or exercises, relief by rest or cooling; no other pathologies that could trigger symptoms secondarily - {OMIM133020}, United States:Sacramento - - - 1 United States Caucasian Male - -
?/? SCN9A_00065 c.4880T>A
    + 49 others
Exon p.(Met1627Lys) D4/S4 27 - Fertleman et al, Neuron 52:767, 2006 - - - - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00066 c.4895C>A
    + 49 others
Exon p.(Ala1632Glu) D4/S4-S5in 27 - Estacion et al, J Neurosci 28:11079, 2008 - - - - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00081 c.4938C>T Exon p.(Ile1646=) D4/S4-S5in 27 - dbSNP-rs61029356 - - - SEQ - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00067 c.4975A>T
    + 49 others
Exon p.(Lys1659*) D4/S5 27 - Cox et al, Nature 444:894, 2006 - - - - unknown n/a - - United States:Sacramento - - - 1 - - - - -
?/? SCN9A_00072 c.5067G>A Exon p.(Trp1689*) P4 27 - Goldberg et al, J Clin Invest 71:311, 2007 - - - SEQ - 10 n/a - - United States:Sacramento - - - 1 Argentina - - - -
?/? SCN9A_00010 c.5934*243_246dupTGAT
    + 10 others
Intron p.(=) - 27 - Lossin, unpublished data - - - SEQ - 1 primary erythermalgia (OMIM133020) pharmacoresistant bilateral redness and pain in extremities triggered by warmth or exercises, relief by rest or cooling; no other pathologies that could trigger symptoms secondarily - {OMIM133020}, United States:Sacramento - - - 1 United States Caucasian Male - -
?/? SCN9A_00084 c.2567G>A Intron p.(Gly856Asp) - 28 - Hoeijmakers et al, Brain doi:10.10193,2012 - - - SWQ - unknown n/a - - United States:Sacramento - - - 1 - - - - -
1 - 76

Legend: [ SCN9A full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Genomic Reference Sequence.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. SCN9A DB-ID: the ID starts with the HGNC gene symbol followed by an underscore (_) and ends with a five digit ID code DNA change: DNA change Location: Variant location at DNA level. Protein: description of variant at protein level, following HGVS recommendations; e.g. p.(Arg345Pro) = (RNA not analysed, change predicted from DNA), p.Arg345Pro (protein change predicted from RNA), p.0 (no protein produced), p.? (unknown effect) Prot/Location: location variant in protein Exon: Exon/Intron numbering. dbSNP: identifier in dbSNP (format {dbSNPxxxx} for rsxxxx) Reference: Reference = publication describing variant submitted, incl. links to OMIM and dbSNP (when available); format {PMID[1]:[2]} (where [1] = PubMedID, [2] = e.g. den Dunnen 2007) or "den Dunnen ASHG2003 P2346". NOTE: not the reference to another report describing this variant. Genetic origin: origin of variant, unknown, germline (i.e. inherited), somatic, de novo or from parental disomy (maternal or paternal) do not use: do not use Protein original: Protein alteration as originally reported Technique: Technique Codon: Variant position with respect to open reading frame (ORF) Patient ID: Internal reference to the patient. Disease: Disease phenotype Phenotype additional: Phenotype, additional features Ref_pat-pheno: reference to publication describing the patient/family and/or giving more phenotypic details than listed in the database, incl. link to PubMed (format {PMID1:2} where 1 = PubMedID, 2 = e.g. den Dunnen 2007) or "den Dunnen ASHG2003 P2346" Inherit: indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial) or isolated (sporadic) Consang.: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown) Fam_Pat: number of families (total patients); 1 (3) = 1 family with 3 patients. Preferably there is 1 record for each independent family # Reported: number of independent families or patients per family reported (for summary data); when details are given for individual families/patients or for several patients per family give these in individual records. Geographic origin: Geographic origin Ethnic origin: Ethnic origin of patient Gender: gender of patient Phenotype/Onset: Phenotype/Onset Histology: -