Variant (rsID / SNP)

rs122459149

rs122459149 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.673T>C (p.Cys225Arg)
Allele change: Silent

Associated conditions / phenotypes

Emery-Dreifuss muscular dystrophy 6

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.