Variant (rsID / SNP)

rs45559835

rs45559835 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SGCD. Location: chromosome 5, position 155,935,708. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SGCDBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:155935708
Cytoband: 5q33.3
HGVS: NM_000337.6(SGCD):c.290G>A (p.Arg97Gln)
Allele change: Missense_R96Q

Associated conditions / phenotypes

Qualitative or quantitative defects of delta-sarcoglycan|Limb-Girdle Muscular Dystrophy, Recessive|Autosomal recessive limb-girdle muscular dystrophy type 2F|Cardiovascular phenotype

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.