Variant (rsID / SNP)

rs368588052

rs368588052 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH6. Location: chromosome 14, position 23,858,687. Clinical significance in the table: Likely benign.

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Reference-table entries

MYH6Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 14:23858687
Cytoband: 14q11.2
HGVS: NM_002471.4(MYH6):c.3893C>T (p.Ala1298Val)
Allele change: Missense_A1298V

Associated conditions / phenotypes

Primary familial hypertrophic cardiomyopathy|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.