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Variant (rsID / SNP)

rs727503242

MYH7

rs727503242 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH7. Location: chromosome 14, position 23,884,256. 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
14:23884256
Cytoband
14q11.2
HGVS
NM_000257.4(MYH7):c.5507C>T (p.Ser1836Leu)
Allele change
Missense_S1836W

Associated conditions / phenotypes

Hypertrophic cardiomyopathy|Myosin storage myopathy|Hypertrophic cardiomyopathy 1|MYH7-related skeletal myopathy|Cardiomyopathy

Public references

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