D37N (p.Asp37Asn) variant of POLG (DNA polymerase subunit gamma-1)
D37N (p.Asp37Asn) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; POLG-related disorder. The record also includes published literature and structural context.
D37N (p.Asp37Asn) variant details
- p.Asp37Asn
- rs2055629922
- ClinGen CA393774736
- ClinVar RCV001116625
- ClinVar RCV005712364
- Uncertain significance
- Inborn genetic diseases; POLG-related disorder
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases; POLG-related disorder)
- 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)