Variant (rsID / SNP)

rs122459148

rs122459148 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FHL1. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

FHL1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq26.3
HGVS: NM_001159699.2(FHL1):c.889T>G (p.Ter297Glu)
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.