Variant (rsID / SNP)

rs121913636

rs121913636 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH7. Location: chromosome 14, position 23,897,749. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MYH7Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:23897749
Cytoband: 14q11.2
HGVS: NM_000257.4(MYH7):c.1538T>G (p.Phe513Cys)
Allele change: Missense_F513C

Associated conditions / phenotypes

Hypertrophic cardiomyopathy 1

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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