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Variant (rsID / SNP)

rs372381770

MYH7

rs372381770 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH7. Location: chromosome 14, position 23,883,310. 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
14:23883310
Cytoband
14q11.2
HGVS
NM_000257.4(MYH7):c.5561C>T (p.Thr1854Met)
Allele change
Missense_T1854M

Associated conditions / phenotypes

Primary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy|Cardiomyopathy

Public references

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