Variant (rsID / SNP)

rs886041387

rs886041387 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SGCA. Location: chromosome 17, position 48,245,879. Clinical significance in the table: Pathogenic.

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Reference-table entries

SGCAPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 17:48245879
Cytoband: 17q21.33
HGVS: NM_000023.4(SGCA):c.530del (p.Ser177fs)

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.