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Variant (rsID / SNP)

rs730880870

MYH7

rs730880870 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH7. Location: chromosome 14, position 23,898,246. 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
14:23898246
Cytoband
14q11.2
HGVS
NM_000257.4(MYH7):c.1325G>A (p.Arg442His)
Allele change
Missense_R442H

Associated conditions / phenotypes

Cardiomyopathy|Hypertrophic cardiomyopathy|Dilated cardiomyopathy 1S

Public references

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