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

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33 public entries
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Exon Hide Exon column Descending
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arvcdatabase.info Hide arvcdatabase.info column Descending
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Disease Hide Disease column Descending
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-/- 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C - Substitution Unpublished - - - - - Variant Details TMEM43_00029 - Unpublished - 0/0 1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.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G p.Met41Val Substitution Unpublished 21 Benign Tolerated - - Variant Details TMEM43_00030 - Unpublished Found once in 150 patients 0/0 1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.163-22_163-23insC - Insertion dbSNP - - - - - Variant Details TMEM43_00005 - dbSNP - - 1
-/- 03 Exon c.222C>T p.= Substitution dbSNP - - - - - Variant Details TMEM43_00006 - dbSNP - - 1
-/- 04 Intron c.298-71C>T - Substitution dbSNP - - - - - Variant Details TMEM43_00007 - dbSNP - - 1
-/- 05 Intron c.393-83G>T - Substitution dbSNP - - - - - Variant Details TMEM43_00008 - dbSNP - - 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T - Substitution Unpublished - - - - - Variant Details TMEM43_00031 - Unpublished - 0/0 1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.536A>T p.Met179Thr Substitution dbSNP - - - - - Variant Details TMEM43_00013 - dbSNP - - 1
?/? 08 Exon c.624A>G p.= Substitution Unpublished - - - - - Variant Details TMEM43_00014 - Unpublished - 0/300 1
-/- 08 Exon c.698A>G p.Tyr233Cys Substitution dbSNP - - - - - Variant Details TMEM43_00015 - dbSNP - - 1
-/- 08 Intron c.705+55G>A - Substitution dbSNP - - - - - Variant Details TMEM43_00016 - dbSNP - - 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 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.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.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 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
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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