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Variant (rsID / SNP)

rs753392652

MYH7

rs753392652 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH7. Location: chromosome 14, position 23,883,216. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MYH7Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
14:23883216
Cytoband
14q11.2
HGVS
NM_000257.4(MYH7):c.5655G>A (p.Ala1885=)
Allele change
Synonymous_A1885A

Associated conditions / phenotypes

Hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 1|Cardiomyopathy|See cases

Public references

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