Annotation Detail
Information
- Associated Genes
- OGG1
- Associated Variants
-
OGG1 c.948+273C>G
(
ENST00000302003.11,
ENST00000302008.12,
ENST00000302036.12,
ENST00000339511.9,
ENST00000344629.12,
ENST00000352937.6,
ENST00000383826.9,
ENST00000449570.6,
ENST00000707074.1 )
OGG1 c.948+273C>G ( ENST00000302003.11, ENST00000302008.12, ENST00000302036.12, ENST00000339511.9, ENST00000344629.12, ENST00000352937.6, ENST00000383826.9, ENST00000449570.6, ENST00000707074.1 ) - Associated Disease
- OGG1-related disorder
- Source Database
- ClinVar
- Description
- NM_002542.6(OGG1):c.977C>G (p.Ser326Cys) AND OGG1-related disorder
- ClinVar Allele ID
- 3193275
- ClinVar RefSeq Alternation Syntax
- NM_001354648.2:c.*246C>G
- ClinVar RefSeq Alternation Syntax
- NM_001354649.2:c.644C>G
- ClinVar RefSeq Alternation Syntax
- NR_148930.2:n.1308C>G
- ClinVar RefSeq Alternation Syntax
- NM_002542.6:c.977C>G
- ClinVar RefSeq Alternation Syntax
- NM_016829.3:c.948+273C>G
- ClinVar RefSeq Alternation Syntax
- NR_148932.2:n.1374C>G
- ClinVar RefSeq Alternation Syntax
- NM_001354650.2:c.797+273C>G
- ClinVar RefSeq Alternation Syntax
- NM_016827.3:c.565+5140C>G
- ClinVar RefSeq Alternation Syntax
- NM_016819.4:c.*246C>G
- ClinVar RefSeq Alternation Syntax
- NM_001354652.2:c.797+273C>G
- ClinVar RefSeq Alternation Syntax
- NM_016828.3:c.948+273C>G
- ClinVar RefSeq Alternation Syntax
- NM_016826.3:c.747+2204C>G
- ClinVar RefSeq Alternation Syntax
- NM_016820.4:c.994C>G
- ClinVar RefSeq Alternation Syntax
- NR_148931.2:n.946C>G
- ClinVar RefSeq Alternation Syntax
- NM_001354651.2:c.898+468C>G
- ClinVar RefSeq Alternation Syntax
- NM_016821.3:c.948+273C>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-10-17
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003974441
- ClinVar Disease
- OGG1-related disorder
- Observed Origin Sample
- germline
Drugs