Variant (rsID / SNP)

rs4770433

rs4770433 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SACS, SGCG. Location: chromosome 13, position 23,903,791. Clinical significance in the table: Likely benign.

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Reference-table entries

SACSLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 13:23903791
Cytoband: 13q12.12
HGVS: NM_014363.6(SACS):c.*484T>C
Allele change: Silent

Associated conditions / phenotypes

Limb-Girdle Muscular Dystrophy, Recessive|Charlevoix-Saguenay spastic ataxia|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.