Variant (rsID / SNP)

rs2241502

rs2241502 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STT3A. Location: chromosome 11, position 125,479,363. Clinical significance in the table: Benign.

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Reference-table entries

STT3ABenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 11:125479363
Cytoband: 11q24.2
HGVS: NM_152713.5(STT3A):c.996G>A (p.Ser332=)
Allele change: Synonymous_S332S

Associated conditions / phenotypes

STT3A-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.