Annotation Detail
Information
- Associated Genes
- POLG FANCI POLGARF
- Associated Variants
-
POLG p.Gln1236His (p.Q1236H), FANCI c.*304C>A
(
ENST00000696718.1,
ENST00000442287.6,
ENST00000268124.11,
ENST00000636937.2,
ENST00000696719.1,
ENST00000696717.1,
ENST00000676003.1,
ENST00000300027.12,
ENST00000310775.12 )
POLG p.Gln1236His (p.Q1236H), FANCI c.*304C>A ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2, ENST00000300027.12, ENST00000310775.12, ENST00000676003.1, ENST00000696717.1, ENST00000696718.1, ENST00000696719.1 ) - Associated Disease
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 mitochondrial DNA depletion syndrome 1 mitochondrial DNA depletion syndrome 4b Progressive sclerosing poliodystrophy sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
- Source Database
- ClinVar
- Description
- NM_002693.3(POLG):c.3708G>T (p.Gln1236His) AND multiple conditions
- ClinVar Allele ID
- 34168
- ClinVar RefSeq Alternation Syntax
- NM_002693.3:c.3708G>T
- ClinVar RefSeq Alternation Syntax
- NM_001376911.1:c.*304C>A
- ClinVar RefSeq Alternation Syntax
- NM_001113378.2:c.*304C>A
- ClinVar RefSeq Alternation Syntax
- NM_018193.3:c.*304C>A
- ClinVar RefSeq Alternation Syntax
- NM_001376910.1:c.*304C>A
- ClinVar RefSeq Alternation Syntax
- NM_001126131.2:c.3708G>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-11-19
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002496426
- 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