L21V (p.Leu21Val) variant of BLM (RecQ-like DNA helicase BLM)
L21V (p.Leu21Val) in BLM (RecQ-like DNA helicase BLM) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Bloom syndrome. The record also includes published literature and structural context.
L21V (p.Leu21Val) variant details
- p.Leu21Val
- rs2505385068
- ClinGen CA2697549315
- ClinVar RCV003506003
- Uncertain significance
- Bloom syndrome
- Missense
- ClinVar: Uncertain significance (Bloom syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
- Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)