Variant (rsID / SNP)

rs132630262

rs132630262 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EMD. Clinical significance in the table: Pathogenic.

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Reference-table entries

EMDPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_000117.3(EMD):c.130C>T (p.Gln44Ter)
Allele change: Nonsense_Q44X

Associated conditions / phenotypes

X-linked Emery-Dreifuss muscular dystrophy

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.