Variant (rsID / SNP)

rs869025431

rs869025431 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FHL1. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FHL1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xq26.3
HGVS: NM_001159699.2(FHL1):c.812G>C (p.Cys271Ser)
Allele change: Silent

Associated conditions / phenotypes

Primary familial hypertrophic cardiomyopathy|X-linked myopathy with postural muscle atrophy

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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