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Variant (rsID / SNP)

rs200153625

MYH6

rs200153625 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH6. Location: chromosome 14, position 23,863,371. 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
14:23863371
Cytoband
14q11.2
HGVS
NM_002471.4(MYH6):c.2591C>T (p.Thr864Met)
Allele change
Missense_T864M

Associated conditions / phenotypes

Primary familial hypertrophic 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.