Variant (rsID / SNP)
rs6126344
rs6126344 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SALL4. Location: chromosome 20, position 50,407,502. Clinical significance in the table: Benign.
Reference-table entries
SALL4Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 20:50407502
- Cytoband
- 20q13.2
- HGVS
- NM_020436.5(SALL4):c.1520T>G (p.Leu507Arg)
- Allele change
- Silent
Associated conditions / phenotypes
Duane-radial ray syndrome|Oculootoradial syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.