Variant (rsID / SNP)
rs35028636
rs35028636 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM43. Location: chromosome 3, position 14,170,981. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
TMEM43Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:14170981
- Cytoband
- 3p25.1
- HGVS
- NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp)
- Allele change
- Missense_R28W
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.
