Variant (rsID / SNP)

rs104894422

rs104894422 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SGCG. Location: chromosome 13, position 23,898,652. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SGCGPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 13:23898652
Cytoband: 13q12.12
HGVS: NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr)
Allele change: Missense_C283Y

Associated conditions / phenotypes

Severe autosomal recessive muscular dystrophy of childhood - North African type

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.