Q51E (p.Gln51Glu) variant of POLG (DNA polymerase subunit gamma-1)
Q51E (p.Gln51Glu) 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; Progressive sclerosing poliodystrophy. The record also includes published literature and structural context.
Q51E (p.Gln51Glu) variant details
- p.Gln51Glu
- rs2509277064
- ClinGen CA393774243
- ClinVar RCV003628433
- ClinVar RCV004371791
- Uncertain significance
- Inborn genetic diseases; Progressive sclerosing poliodystrophy
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases; Progressive sclerosing poliodystrophy)
- 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)