Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands
LOVD - Variant listings for TMEM43

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Variant remarks Hide Variant remarks column Descending
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Disease Hide Disease column Descending
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-/- 01 5'UTR c.-158A>G - Substitution arvcdatabase.info - - - - - Variant Details TMEM43_00034 - arvcdatabase.info - - 1
-/- 01 Intron c.12+33A>G - Substitution arvcdatabase.info - - - - - Variant Details TMEM43_00035 - arvcdatabase.info - - 1
-/- 01 Intron c.12+34G>C - Substitution Unpublished - - - - - Variant Details TMEM43_00029 - Unpublished - 0/0 1
-/- 02 Intron c.13-93_13-94insAA - Insertion dbSNP - - - - - Variant Details TMEM43_00001 - dbSNP - - 1
-/- 02 Intron c.13-79_13-80delAA - Deletion dbSNP - - - - - Variant Details TMEM43_00002 - dbSNP - - 1
-/- 02 Intron c.13-77_13-78insAA - Insertion dbSNP - - - - - Variant Details TMEM43_00003 - dbSNP - - 1
?/? 02 Exon c.31C>T p.Arg11Trp Substitution arvcdatabase.info 101 Probably damaging Affect protein function - - Variant Details TMEM43_00036 - arvcdatabase.info - - 1
-/- 02 Exon c.51T>G p.Val17= Substitution arvcdatabase.info - - - - - Variant Details TMEM43_00037 - arvcdatabase.info - - 1
-/- 02 Exon c.82C>T p.Arg28Trp Substitution dbSNP - - - - - Variant Details TMEM43_00004 - dbSNP - - 1
?/? 02 Exon c.121A>G p.Met41Val Substitution Unpublished 21 Benign Tolerated - - Variant Details TMEM43_00030 - Unpublished Found once in 150 patients 0/0 1
-/- 03 Intron c.163-93G>A - Substitution arvcdatabase.info - - - - - Variant Details TMEM43_00038 - arvcdatabase.info - - 1
-/- 03 Intron c.163-22_163-23insC - Insertion dbSNP - - - - - Variant Details TMEM43_00005 - dbSNP - - 1
-/- 03 Intron c.163-3delC - Deletion arvcdatabase.info - - - - - Variant Details TMEM43_00040 - arvcdatabase.info - - 1
-/- 03 Exon c.169G>A p.Ala57Thr Substitution arvcdatabase.info 58 Possibly damaging Affect protein function - - Variant Details TMEM43_00041 - arvcdatabase.info - - 1
-/- 03 Exon c.222C>T p.= Substitution dbSNP - - - - - Variant Details TMEM43_00006 - dbSNP - - 1
?/? 03 Exon c.265G>A p.Val89Met Substitution arvcdatabase.info 21 Probably damaging Affect protein function - - Variant Details TMEM43_00042 - arvcdatabase.info - - 1
?/? 03 Exon c.271A>G p.Ile91Val Substitution arvcdatabase.info 29 Benign Tolerated - - Variant Details TMEM43_00043 - arvcdatabase.info - - 1
-/- 03 Intron c.297+13G>A - Substitution arvcdatabase.info - - - - - Variant Details TMEM43_00039 - arvcdatabase.info - - 1
-/- 04 Intron c.298-106C>T - Substitution arvcdatabase.info - - - - - Variant Details TMEM43_00044 - arvcdatabase.info - - 1
-/- 04 Intron c.298-71C>T - Substitution dbSNP - - - - - Variant Details TMEM43_00007 - dbSNP - - 1
+/+ 04 Exon c.332C>T p.Pro111Leu Substitution arvcdatabase.info 98 Possibly damaging Tolerated - - Variant Details TMEM43_00045 - arvcdatabase.info - - 1
?/? 04 Exon c.352C>T p.His118Tyr Substitution arvcdatabase.info 83 Possibly damaging Tolerated - Two abnormal spliced transcripts: r.352c>u; p.His118Tyr and r.351_392del; p.His118_Arg1331del (ratio 2:1) Variant Details TMEM43_00046 - arvcdatabase.info - - 1
-/- 05 Intron c.393-83G>T - Substitution dbSNP - - - - - Variant Details TMEM43_00008 - dbSNP - - 1
-/- 05 Intron c.393-40G>A - Substitution arvcdatabase.info - - - - - Variant Details TMEM43_00047 - arvcdatabase.info - - 1
?/? 05 Exon c.403G>A p.Glu135Lys Substitution arvcdatabase.info 56 Probably damaging Affect protein function - - Variant Details TMEM43_00048 - arvcdatabase.info - - 1
-/- 05 Exon c.424G>A p.Glu142Lys Substitution arvcdatabase.info 56 Probably damaging Affect protein function - - Variant Details TMEM43_00049 - arvcdatabase.info - - 1
?/? 05 Exon c.428C>T p.Thr143Met Substitution arvcdatabase.info 81 Possibly damaging Affect protein function - - Variant Details TMEM43_00050 - arvcdatabase.info - - 1
-/- 05 Intron c.442+43delG - Deletion arvcdatabase.info - - - - - Variant Details TMEM43_00051 - arvcdatabase.info - - 1
-/- 05 Intron c.442+51T>C - Substitution dbSNP - - - - - Variant Details TMEM43_00009 - dbSNP - - 1
-/- 06 Intron c.443-48G>A - Substitution dbSNP - - - - - Variant Details TMEM43_00010 - dbSNP - - 1
-/- 06 Exon c.504A>T p.Lys168Asn Substitution dbSNP - - - - - Variant Details TMEM43_00011 - dbSNP - - 1
-/- 06 Intron c.512+19G>T - Substitution Unpublished - - - - - Variant Details TMEM43_00031 - Unpublished - 0/0 1
-/- 07 Intron c.513-80G>A - Substitution dbSNP - - - - - Variant Details TMEM43_00012 - dbSNP - - 1
-/- 07 Exon c.520G>A p.Ala174Thr Substitution arvcdatabase.info 58 Probably damaging Tolerated - - Variant Details TMEM43_00052 - arvcdatabase.info - - 1
-/- 07 Exon c.536A>T p.Met179Thr Substitution dbSNP - - - - - Variant Details TMEM43_00013 - dbSNP - - 1
-/- 07 Intron c.583+30G>A - Substitution arvcdatabase.info - - - - - Variant Details TMEM43_00053 - arvcdatabase.info - - 1
?/? 08 Exon c.624A>G p.= Substitution Unpublished - - - - - Variant Details TMEM43_00014 - Unpublished - 0/300 1
-/- 08 Exon c.625T>G p.Ser209Ala Substitution arvcdatabase.info 99 Benign Tolerated - - Variant Details TMEM43_00055 - arvcdatabase.info - - 1
-/- 08 Exon c.698A>G p.Tyr233Cys Substitution dbSNP - - - - - Variant Details TMEM43_00015 - dbSNP - - 1
+/+ 08 Intron c.705+7G>A r.spl? Substitution arvcdatabase.info - - - - - Variant Details TMEM43_00056 - arvcdatabase.info - - 1
-/- 08 Intron c.705+52C>G - Substitution arvcdatabase.info - - - - - Variant Details TMEM43_00054 - arvcdatabase.info - - 1
-/- 08 Intron c.705+55G>A - Substitution dbSNP - - - - - Variant Details TMEM43_00016 - dbSNP - - 1
?/? 09 Exon c.718C>T p.Arg240Cys Substitution arvcdatabase.info 180 Probably damaging Affect protein function - - Variant Details TMEM43_00057 - arvcdatabase.info - - 1
?/? 09 Exon c.719G>A p.Arg240His Substitution arvcdatabase.info 29 Probably damaging Affect protein function - - Variant Details TMEM43_00058 - arvcdatabase.info - - 1
-/- 10 Intron c.781-56G>A - Substitution dbSNP - - - - - Variant Details TMEM43_00017 - dbSNP - - 1
-/- 10 Intron c.781-42C>T - Substitution Unpublished - - - - - Variant Details TMEM43_00032 - Unpublished - 0/0 1
?/? 10 Exon c.829A>T p.Arg277Ser Substitution arvcdatabase.info 58 Benign Affect protein function - DNA change not specified Variant Details TMEM43_00059 - arvcdatabase.info - - 1
?/? 10 Exon c.844 A>G p.Thr282Ala Substitution arvcdatabase.info 58 Benign Tolerated - - Variant Details TMEM43_00060 - arvcdatabase.info - - 1
-/- 10 Intron c.882+25G>A - Substitution Unpublished - - - - - Variant Details TMEM43_00033 - Unpublished - 0/0 1
-/- 11 Intron c.883-47C>T - Substitution dbSNP - - - - - Variant Details TMEM43_00018 - dbSNP - - 1
?/? 11 Exon c.896G>C p.Arg299Thr Substitution arvcdatabase.info 71 Benign Tolerated - - Variant Details TMEM43_00061 - arvcdatabase.info - - 1
-/- 11 Exon c.909C>T p.= Substitution dbSNP - - - - - Variant Details TMEM43_00019 - dbSNP - - 1
-/- 11 Exon c.934C>T p.Arg312Trp Substitution Unpublished 101 Probably damaging Affect protein function - - Variant Details TMEM43_00020 - Unpublished - 4/500 1
-/- 11 Exon c.953C>T p.Ala318Val Substitution dbSNP - - - Transmembrane 2 - Variant Details TMEM43_00021 - dbSNP - - 1
-/- 12 Intron c.1001-41G>A - Substitution dbSNP - - - - - Variant Details TMEM43_00022 - dbSNP - - 1
-/- 12 Exon c.1013C>T p.Pro338Leu Substitution dbSNP - - - - - Variant Details TMEM43_00023 - dbSNP - - 1
?/? 12 Exon c.1026C>A/G p.Asp342Glu Substitution arvcdatabase.info 45 Benign Tolerated - - Variant Details TMEM43_00062 - arvcdatabase.info - - 1
+/+ 12 Exon c.1073C>T p.Ser358Leu Substitution Merner et al. 145 Possibly damaging Affect protein function Transmembrane 3 - Variant Details TMEM43_00024 ARVD/C. TFC+ - Modified TFC (Hamid et al. JACC 2002); 15 families from Newfoundland, Canada 0/322 114
-/- 12 Exon c.1096G>A p.Ala366Thr Substitution dbSNP - - - - - Variant Details TMEM43_00025 - dbSNP - - 1
?/? 12 Exon c.1105C>T p.Leu369Phe Substitution arvcdatabase.info 22 Benign Tolerated - - Variant Details TMEM43_00063 - arvcdatabase.info - - 1
-/- 12 Exon c.1111T>C p.Tyr371His Substitution arvcdatabase.info 83 Possibly damaging Tolerated - - Variant Details TMEM43_00064 - arvcdatabase.info - - 1
?/? 12 Exon c.1141G>A p.Gly381Ser Substitution arvcdatabase.info 56 Benign Tolerated - - Variant Details TMEM43_00065 - arvcdatabase.info - - 1
-/- 12 3' UTR c.*16C>T - Substitution dbSNP - - - - - Variant Details TMEM43_00026 - dbSNP - - 1
?/? 12 3' UTR c.*31T>C - Substitution Unpublished - - - - - Variant Details TMEM43_00027 - Unpublished - 3/300 1
-/- 12 3' UTR c.*115T>C - Substitution dbSNP - - - - - Variant Details TMEM43_00028 - dbSNP - - 1
-/- 16 Exon c.2605A>T p.Thr869Ser Substitution arvcdatabase.info 58 - Affect protein function - - Variant Details TMEM43_00066 - arvcdatabase.info - - 1
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Legend: [ TMEM43 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.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Exon: Exon numbering. Location: Variant location at DNA level. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. Protein: Variation at protein level. Type: Type of variant at DNA level. Reference(s): Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Grantham Score: Scores chemical differences between amino acids PolyPhen: predicts possible impact of an amino acid substitution on the structure and function of a human protein using straightforward physical and comparative considerations SIFT: predicts whether an amino acid substitution affects protein function based on sequence homology and the physical properties of amino acids. Domain: Amino acid is part of this domain Variant remarks: Variant remarks arvcdatabase.info: Link to details page at www.arvcdatabase.info TMEM43 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference: Reference describing the variation Controls: found in control chromosomes e.g. 0/100 # Reported: Number of times this case has been reported