Variant (rsID / SNP)

rs199527818

rs199527818 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SGCA. Location: chromosome 17, position 48,243,371. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SGCAConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 17:48243371
Cytoband: 17q21.33
HGVS: NM_000023.4(SGCA):c.-31T>C
Allele change: Silent

Associated conditions / phenotypes

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.