LOVD - Variant listings for SCN9A

About this overview [Show]

Patient data (#0003455)
Patient ID unknown
Disease n/a
Phenotype additional -
Remarks -
Ref_pat-pheno United States:Sacramento
Inherit -
Consang. -
Fam_Pat -
# Reported 1
Geographic origin -
Ethnic origin -
Gender -
Phenotype/Onset -
Histology -
Submitter Christoph Lossin

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
DB-ID SCN9A_00061
DNA change c.3895G>T   (View in UCSC Genome Browser, Ensembl)
Location Exon
Protein p.(Val1299Phe)
Prot/Location D3/S4
Exon 22
dbSNP -
Reference Jarecki et al, J Physiol 586:4137, 2008
Genetic origin -
do not use -
Protein original -
Technique
Codon -

50 entries in SCN9A

Path.
Allele Descending
Ascending
DB-ID Descending
Ascending
DNA change Descending
Ascending
Location Descending
Ascending
Protein Descending
Ascending
Prot/Location Descending
Ascending
Exon Descending
Ascending
dbSNP Descending
Ascending
Reference Descending
Ascending
Genetic origin Descending
Ascending
do not use Descending
Ascending
Protein original Descending
Ascending
Technique Descending
Ascending
Codon Descending
Ascending
?/? Unknown SCN9A_00012 c.184A>G Exon p.(Ile62Val) N-terminus 2 - Singh et al, PLOS Genetics 5(9):1, 2009 - n.a. - -
?/? Unknown SCN9A_00013 c.406A>G Exon p.(Ile136Val) D1/S1 4 - Cheng et al, Mol Pain 4:1, 2008 - - - -
?/? Unknown SCN9A_00014 c.446C>A Exon p.(Pro149Gln) D1/S1-S2ex 4 - Singh et al, PLOS Genetics 5(9):1, 2009 - n.a. - -
?/? Unknown SCN9A_00015 c.601T>G Exon p.(Leu201Val) D1/S3 6 - Hisama et al, SCN9A-Related Inherited Erythromelalgia, in: Pagon et al (eds), Gene Reviews, Seatle - Washington, 2006. - - - -
?/? Unknown SCN9A_00016 c.616A>G 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 SCN9A_00017 c.647T>C Exon p.(Phe216Ser) D1/S4 6 - Drenth et al, J Invest Dermatol 124:1333, 2005 - - - -
?/? Maternal (confirmed) SCN9A_00018 c.684C>G Exon p.(Ile228Met) D1/S4 6 - Singh et al, PLOS Genetics 5(9):1, 2009 - maternal - -
?/? Unknown SCN9A_00019 c.721T>A Exon p.(Ser241Thr) D1/S4-S5in 7 - Lampert et al, J Biol Chem 281:36029, 2006 - - - -
?/? Unknown SCN9A_00020 c.774_775delGT Exon p.(Val258Valfs*16) D1/S5 7 - Nilsen et al, Pain 145:264, 2009 - - ? -
?/? Unknown SCN9A_00021 c.829C>T Exon p.(Arg277*) P1 7 - Goldberg et al, J Clin Invest 71:311, 2007 - - - -
?/? Unknown SCN9A_00022 c.984C>A Exon p.(Tyr328*) P1 9 - Goldberg et al, J Clin Invest 71:311, 2007 - - - -
?/? Unknown SCN9A_00023 c.1119T>C Exon p.(=) P1 10 - Drenth et al, J Invest Dermatol 124:1333, 2005dbSNP-rs13414203 - - A373A -
?/? Unknown SCN9A_00024 c.1185C>A Exon p.(Asn395Lys) D1/S6 10 - Drenth et al, J Invest Dermatol 124:1333, 2005 - - N395K -
?/? Unknown SCN9A_00025 c.1266A>G Exon p.(=) L1 10 - Drenth et al, J Invest Dermatol 124:1333, 2005dbSNP-rs13402180 - - E422E -
?/? Unknown SCN9A_00026 c.1287T>A Exon p.(=) L1 10 - Drenth et al, J Invest Dermatol 124:1333, 2005dbSNP-rs6747673 - - R429R -
?/? Unknown SCN9A_00027 c.1376C>G Exon p.(Ser459*) L1 11 - Cox et al, Nature 444:894, 2006 - - S459X -
?/? Unknown SCN9A_00028 c.1469G>A Exon p.(Ser490Asn) L1 11 - Singh et al, PLOS Genetics 5(9):1, 2009 - n.a. - -
?/? Maternal (confirmed) SCN9A_00029 c.1555G>A Exon p.(Glu519Lys) L1 11 - Singh et al, PLOS Genetics 5(9):1, 2009 - maternal - -
?/? Unknown SCN9A_00030 c.1828C>A Exon p.(Pro610Thr) L1 12 - Drenth et al, J Invest Dermatol 124:1333, 2005 - - - -
?/? Unknown SCN9A_00031 c.1846G>A Exon p.(Gly616Arg) L1 12 - Choi et al, Brain 133:1823, 2010 - - - -
?/? Unknown SCN9A_00032 c.1921A>T Exon p.(Asn641Tyr) L1 12 - Singh et al, PLOS Genetics 5(9):1, 2009 - ad - -
?/? Unknown SCN9A_00033 c.1964A>G Exon p.(Lys655Arg) L1 13 - Singh et al, PLOS Genetics 5(9):1, 2009 - n.a. - -
?/? Paternal (confirmed) SCN9A_00034 c.1964A>G Exon p.(Lys655Arg) L1 13 - Singh et al, PLOS Genetics 5(9):1, 2009 - paternal - -
?/? Maternal (confirmed) SCN9A_00035 c.2052A>G Exon p.(Ile684Met) L1 13 - Singh et al, PLOS Genetics 5(9):1, 2009 - maternal - -
?/? Paternal (confirmed) SCN9A_00036 c.2096G>A Exon p.(Cys699Tyr) L1 14 - Singh et al, PLOS Genetics 5(9):1, 2009 - paternal - -
?/? Paternal (confirmed) SCN9A_00037 c.2215A>G Exon p.(Ile739Val) D2/S1 14 - Singh et al, PLOS Genetics 5(9):1, 2009 - paternal - -
?/? Paternal (confirmed) SCN9A_00038 c.2215A>G Exon p.(Ile739Val) D2/S1 14 - Singh et al, PLOS Genetics 5(9):1, 2009 - paternal - -
?/? Unknown SCN9A_00039 c.2298delT Exon p.(Ala766Alafs*2) D2/S1-S2ex 14 - Cox et al, Nature 444:894, 2006 - - I767X -
?/? Unknown SCN9A_00042 c.2468T>G Exon p.(Leu823Arg) D2/S3 15 - Hisama et al, SCN9A-Related Inherited Erythromelalgia, in: Pagon et al (eds), Gene Reviews, Seatle - Washington, 2006. - - - -
?/? Unknown SCN9A_00043 c.2488C>T Exon p.(Arg830*) D2/S3-S4ex 16 - Nilsen et al, Pain 145:264, 2009 - - ? -
?/? Unknown SCN9A_00044 c.2543T>C Exon p.(Ile848Thr) D2/S4 16 - Yang et al, J Med Genet 41:171, 2004 - de novo - -
?/? Unknown SCN9A_00045 c.2572C>T Exon p.(Leu858Phe) D2/S4-S5in 16 - Drenth et al, J Invest Dermatol 124:1333, 2005 - - - -
?/? Unknown SCN9A_00046 c.2573T>A Exon p.(Leu858His) D2/S4-S5in 16 - Yang et al, J Med Genet 41:171, 2004 - - - -
?/? Unknown SCN9A_00047 c.2587G>C Exon p.(Ala863Pro) D2/S4-S5in 16 - Harty et al, J Neurosci 26:12566, 2006 - - - -
?/? Unknown SCN9A_00048 c.2615T>G Exon p.(Val872Gly) D2/S5 16 - Choi et al, Exp Neurol 216:383, 2009 - - - -
?/? Unknown SCN9A_00049 c.2691G>A Exon p.(Trp897*) P2 16 - Cox et al, Nature 444:894, 2006 - - W897X -
?/? Unknown SCN9A_00053 c.2986C>T Exon p.(Arg996Cys) L2 17 - Fertleman et al, Neuron 52:767, 2006 - - - -
?/? Maternal (confirmed) SCN9A_00054 c.3369G>T Exon p.(Leu1123Phe) L2 18 - Singh et al, PLOS Genetics 5(9):1, 2009 - maternal - -
?/? Unknown SCN9A_00055 c.3448C>T Exon p.(Arg1150Trp) L2 19 - Drenth et al, J Invest Dermatol 124:1333, 2005 - - - -
?/? Maternal (confirmed) SCN9A_00056 c.3478G>C Exon p.(Glu1160Gln) L2 19 - Singh et al, PLOS Genetics 5(9):1, 2009 - maternal - -
?/? Unknown SCN9A_00058 c.3703delATAGCATATGG Exon p.(Ile1235Leufs*2) D3/S2 20 - Cox et al, Nature 444:894, 2006 - - - -
?/? Unknown SCN9A_00059 c.3799C>A Exon p.(Leu1267Ile) D3/S3 21 - Singh et al, PLOS Genetics 5(9):1, 2009 - n.a. - -
?/? Unknown SCN9A_00060 c.3892G>T Exon p.(Val1298Phe) D3/S4 22 - Jarecki et al, J Physiol 586:4137, 2008 - - - -
?/? Unknown SCN9A_00061 c.3895G>T Exon p.(Val1299Phe) D3/S4 22 - Jarecki et al, J Physiol 586:4137, 2008 - - - -
?/? Unknown SCN9A_00062 c.4345T>G Exon p.(Phe1449Val) D3/S6 24 - Dib-Hajj et al, Brain 128:1847, 2005 - - - -
?/? Unknown SCN9A_00063 c.4382T>C Exon p.(Ile1461Thr) L3 25 - Fertleman et al, Neuron 52:767, 2006 - - - -
?/? Unknown SCN9A_00064 c.4391C>T Exon p.(Thr1464Ile) L3 25 - Fertleman et al, Neuron 52:767, 2006 - - - -
?/? Unknown SCN9A_00065 c.4880T>A Exon p.(Met1627Lys) D4/S4 27 - Fertleman et al, Neuron 52:767, 2006 - - - -
?/? Unknown SCN9A_00066 c.4895C>A Exon p.(Ala1632Glu) D4/S4-S5in 27 - Estacion et al, J Neurosci 28:11079, 2008 - - - -
?/? Unknown SCN9A_00067 c.4975A>T Exon p.(Lys1659*) D4/S5 27 - Cox et al, Nature 444:894, 2006 - - - -