Variant (rsID / SNP)
rs763727038
rs763727038 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALG3. Location: chromosome 3, position 183,966,678. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
ALG3Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:183966678
- Cytoband
- 3q27.1
- HGVS
- NM_005787.6(ALG3):c.51A>G (p.Ala17=)
- Allele change
- Silent
Associated conditions / phenotypes
ALG3-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.
