Variant (rsID / SNP)

rs201123766

rs201123766 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SRD5A3. Location: chromosome 4, position 56,212,554. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SRD5A3Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 4:56212554
Cytoband: 4q12
HGVS: NM_024592.5(SRD5A3):c.51G>T (p.Ala17=)
Allele change: Synonymous_A17A

Associated conditions / phenotypes

SRD5A3-congenital disorder of glycosylation

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.