Variant (rsID / SNP)
rs35632616
rs35632616 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ASXL1. Location: chromosome 20, position 31,023,028. Clinical significance in the table: Benign.
Reference-table entries
ASXL1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 20:31023028
- Cytoband
- 20q11.21
- HGVS
- NM_015338.6(ASXL1):c.2513A>G (p.Lys838Arg)
- Allele change
- Missense_K838R
Associated conditions / phenotypes
Bohring-Opitz syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.