E120Q (p.Glu120Gln) variant of ERCC2 (P18074)
E120Q (p.Glu120Gln) in ERCC2 (P18074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The record also includes published literature and structural context.
E120Q (p.Glu120Gln) variant details
- p.Glu120Gln
- rs2514043593
- ClinGen CA406377915
- ClinVar RCV003839446
- ClinVar RCV004621919
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)