Variant (rsID / SNP)

rs122458143

rs122458143 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FHL1. Clinical significance in the table: Pathogenic.

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Reference-table entries

FHL1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq26.3
HGVS: NM_001159699.2(FHL1):c.443G>T (p.Cys148Phe)
Allele change: Silent

Associated conditions / phenotypes

Myopathy, reducing body, X-linked, early-onset, severe

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.