Variant (rsID / SNP)

rs606231322

rs606231322 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH7. Location: chromosome 14, position 23,898,280. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MYH7Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 14:23898280
Cytoband: 14q11.2
HGVS: NM_000257.4(MYH7):c.1291G>A (p.Val431Met)
Allele change: Missense_V431M

Associated conditions / phenotypes

Familial cardiomyopathy|Hypertrophic 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.