Annotation Detail
Information
- Associated Genes
- POLG POLGARF
- Associated Variants
-
POLG p.Ala467Thr (p.A467T)
(
ENST00000268124.11,
ENST00000636937.2,
ENST00000442287.6 )
POLG p.Ala467Thr (p.A467T) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 ) - Associated Disease
- mitochondrial DNA depletion syndrome 4b sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive sclerosing poliodystrophy
- Source Database
- ClinVar
- Description
- NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) AND multiple conditions
- ClinVar Allele ID
- 28535
- ClinVar RefSeq Alternation Syntax
- NM_001126131.2:c.1399G>A
- ClinVar RefSeq Alternation Syntax
- NM_002693.3:c.1399G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2020-07-21
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001731286
- 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 4b
- ClinVar Disease
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
- Observed Origin Sample
- germline
Drugs