Variant (rsID / SNP)
rs2241501
rs2241501 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STT3A. Location: chromosome 11, position 125,479,496. Clinical significance in the table: Benign.
Reference-table entries
STT3ABenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:125479496
- Cytoband
- 11q24.2
- HGVS
- NM_152713.5(STT3A):c.1117+12C>T
- Allele change
- Silent
Associated conditions / phenotypes
STT3A-congenital disorder of glycosylation
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.