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Variant (rsID / SNP)

rs397516135

MYH7

rs397516135 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH7. Location: chromosome 14, position 23,895,022. 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
14:23895022
Cytoband
14q11.2
HGVS
NM_000257.4(MYH7):c.2168G>A (p.Arg723His)
Allele change
Missense_R723H

Associated conditions / phenotypes

Familial cardiomyopathy|Hypertrophic cardiomyopathy|Dilated cardiomyopathy 1S|Myosin storage myopathy|MYH7-related skeletal myopathy

Public references

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