Variant (rsID / SNP)

rs121913631

rs121913631 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH7. Location: chromosome 14, position 23,893,316. Clinical significance in the table: Pathogenic.

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Reference-table entries

MYH7Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:23893316
Cytoband: 14q11.2
HGVS: NM_000257.4(MYH7):c.2722C>G (p.Leu908Val)
Allele change: Missense_L908V

Associated conditions / phenotypes

Hypertrophic cardiomyopathy 1|Primary familial hypertrophic cardiomyopathy|Cardiovascular phenotype|Hypertrophic cardiomyopathy|Cardiomyopathy

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.