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Variant (rsID / SNP)

rs187073962

MYH7

rs187073962 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH7. Location: chromosome 14, position 23,883,054. Clinical significance in the table: Likely benign.

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Reference-table entries

MYH7Likely benign
Clinical significance (as recorded)
Likely benign
Variant type
single nucleotide variant
Chromosome / position
14:23883054
Cytoband
14q11.2
HGVS
NM_000257.4(MYH7):c.5704G>C (p.Glu1902Gln)
Allele change
Missense_E1902Q

Associated conditions / phenotypes

Cardiovascular phenotype|Hypertrophic cardiomyopathy|Left ventricular noncompaction cardiomyopathy|MYH7-related skeletal myopathy|Dilated cardiomyopathy 1S|Myosin storage myopathy|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.