Variant (rsID / SNP)

rs365990

rs365990 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH6. Location: chromosome 14, position 23,861,811. Clinical significance in the table: Benign.

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Reference-table entries

MYH6Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 14:23861811
Cytoband: 14q11.2
HGVS: NM_002471.4(MYH6):c.3302T>C (p.Val1101Ala)
Allele change: Missense_V1101A

Associated conditions / phenotypes

Cardiovascular phenotype|Hypertrophic cardiomyopathy 14

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.