Variant (rsID / SNP)

rs753650776

rs753650776 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SGCA. Location: chromosome 17, position 48,245,838. Clinical significance in the table: Pathogenic.

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Reference-table entries

SGCAPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 17:48245838
Cytoband: 17q21.33
HGVS: NM_000023.4(SGCA):c.489del (p.Leu164fs)

Associated conditions / phenotypes

Autosomal recessive limb-girdle muscular dystrophy type 2D

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.