H1134Q (p.His1134Gln) variant of POLG (DNA polymerase subunit gamma-1)
H1134Q (p.His1134Gln) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Progressive sclerosing poliodystrophy. The record also includes published literature and structural context.
H1134Q (p.His1134Gln) variant details
- p.His1134Gln
- rs749765817
- ClinGen CA393749802
- ClinVar RCV003628169
- Likely pathogenic
- Progressive sclerosing poliodystrophy
- Missense
- ClinVar: Likely pathogenic (Progressive sclerosing poliodystrophy)
- EBI: Likely pathogenic (in MTDPS4A)
- UniProt: Likely pathogenic (in MTDPS4A)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)