Variant (rsID / SNP)

rs17314986

rs17314986 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SGCG. Location: chromosome 13, position 23,824,818. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SGCGBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 13:23824818
Cytoband: 13q12.12
HGVS: NM_000231.3(SGCG):c.347G>A (p.Arg116His)
Allele change: Missense_R116H

Associated conditions / phenotypes

Severe autosomal recessive muscular dystrophy of childhood - North African type|Limb-Girdle Muscular Dystrophy, Recessive|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.