Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs151010429

TMEM43

rs151010429 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM43. Location: chromosome 3, position 14,172,328. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

TMEM43Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:14172328
Cytoband
3p25.1
HGVS
NM_024334.3(TMEM43):c.169G>A (p.Ala57Thr)
Allele change
Missense_A57T

Associated conditions / phenotypes

Arrhythmogenic right ventricular dysplasia 5|Cardiovascular phenotype|Arrhythmogenic right ventricular cardiomyopathy|Cardiomyopathy

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.