A2G (p.Ala2Gly) variant of CHD7 (Q9P2D1)
A2G (p.Ala2Gly) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes experimental measurements, published literature, and structural context.
A2G (p.Ala2Gly) variant details
- p.Ala2Gly
- rs1809000474
- ClinGen CA371295000
- ClinVar RCV002357971
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.472
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)