M83V (p.Met83Val) variant of CHD7 (Q9P2D1)
M83V (p.Met83Val) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of CHARGE syndrome. The record also includes published literature and structural context.
M83V (p.Met83Val) variant details
- p.Met83Val
- rs1809024182
- ClinGen CA371296746
- ClinVar RCV001329003
- Ensembl rs1809024182
- Uncertain significance
- CHARGE syndrome
- Missense
- ClinVar: Uncertain significance (CHARGE syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: CHD7 Disorder. (PMID 20301296)
- Cited in: Clinical utility gene card for: CHARGE syndrome. (PMID 21407266)