Annotation Detail
Information
- Associated Genes
- POLG POLGARF
- Associated Variants
-
POLG p.Gly11Asp (p.G11D), POLGARF p.Arg29= (p.R29=)
(
ENST00000706918.1,
ENST00000636937.2,
ENST00000268124.11,
ENST00000442287.6 )
POLG p.Gly11Asp (p.G11D), POLGARF p.Arg29= (p.R29=) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2, ENST00000706918.1 ) - Associated Disease
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 mitochondrial DNA depletion syndrome 1 mitochondrial DNA depletion syndrome 4b Progressive sclerosing poliodystrophy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
- Source Database
- ClinVar
- Description
- NM_002693.3(POLG):c.32G>A (p.Gly11Asp) AND multiple conditions
- ClinVar Allele ID
- 192343
- ClinVar RefSeq Alternation Syntax
- NM_002693.3:c.32G>A
- ClinVar RefSeq Alternation Syntax
- NM_001126131.2:c.32G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2018-10-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000763999
- ClinVar Disease
- Progressive sclerosing poliodystrophy
- ClinVar Disease
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
- ClinVar Disease
- Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
- ClinVar Disease
- Mitochondrial DNA depletion syndrome 1
- ClinVar Disease
- Mitochondrial DNA depletion syndrome 4b
- ClinVar Disease
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
- Observed Origin Sample
- unknown
Drugs