G43V (p.Gly43Val) variant of TUBA1A (Tubulin alpha-1A chain)
G43V (p.Gly43Val) in TUBA1A (Tubulin alpha-1A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Inborn genetic diseases. The record also includes published literature and structural context.
G43V (p.Gly43Val) variant details
- p.Gly43Val
- rs2498863473
- ClinGen CA384645281
- ClinVar RCV003198042
- ClinVar RCV004765769
- Conflicting interpretations
- not provided; Inborn genetic diseases
- Missense
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- 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)