Variant (rsID / SNP)

rs3829352

rs3829352 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SACS, SGCG. Location: chromosome 13, position 23,898,975. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SACSBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 13:23898975
Cytoband: 13q12.12
HGVS: NM_000231.3(SGCG):c.*295T>C
Allele change: Silent

Associated conditions / phenotypes

Severe autosomal recessive muscular dystrophy of childhood - North African type|Limb-Girdle Muscular Dystrophy, Recessive|Charlevoix-Saguenay spastic ataxia|Sarcoglycanopathy

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.