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Variant (rsID / SNP)

rs201327273

MYH6

rs201327273 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH6. Location: chromosome 14, position 23,872,631. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MYH6Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
14:23872631
Cytoband
14q11.2
HGVS
NM_002471.4(MYH6):c.824T>A (p.Ile275Asn)
Allele change
Missense_I275N

Associated conditions / phenotypes

Primary dilated cardiomyopathy|Primary familial dilated cardiomyopathy|Hypertrophic cardiomyopathy 14

Public references

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