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Variant (rsID / SNP)

rs1060501452

MYH7

rs1060501452 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH7. Location: chromosome 14, position 23,898,513. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

MYH7Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
14:23898513
Cytoband
14q11.2
HGVS
NM_000257.4(MYH7):c.1182C>A (p.Asp394Glu)
Allele change
Missense_D394E

Associated conditions / phenotypes

Hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 1

Public references

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