Variant (rsID / SNP)
rs63750743
rs63750743 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM43. Location: chromosome 3, position 14,183,165. Clinical significance in the table: Pathogenic.
Reference-table entries
TMEM43Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:14183165
- Cytoband
- 3p25.1
- HGVS
- NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu)
- Allele change
- Missense_S358L
Associated conditions / phenotypes
Arrhythmogenic right ventricular dysplasia 5|Arrhythmogenic right ventricular cardiomyopathy|Familial isolated arrhythmogenic right ventricular dysplasia|Cardiovascular phenotype|Cardiomyopathy|Hypertrophic cardiomyopathy|Primary dilated cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.