Annotation Detail
Information
- Associated Genes
- ABCG2
- Associated Variants
-
ABCG2 c.841+3A>G
(
ENST00000237612.8,
ENST00000515655.5,
ENST00000650821.1 )
ABCG2 c.841+3A>G ( ENST00000237612.8, ENST00000515655.5, ENST00000650821.1 ) - Associated Disease
- ABCG2-related disorder
- Source Database
- ClinVar
- Description
- NM_004827.3(ABCG2):c.841+3A>G AND ABCG2-related disorder
- ClinVar Allele ID
- 3196421
- ClinVar RefSeq Alternation Syntax
- NM_001348985.1:c.841+3A>G
- ClinVar RefSeq Alternation Syntax
- NM_001348986.1:c.841+3A>G
- ClinVar RefSeq Alternation Syntax
- NM_004827.3:c.841+3A>G
- ClinVar RefSeq Alternation Syntax
- NM_001348988.1:c.841+3A>G
- ClinVar RefSeq Alternation Syntax
- NM_001348989.2:c.841+3A>G
- ClinVar RefSeq Alternation Syntax
- NM_001348987.1:c.841+3A>G
- ClinVar RefSeq Alternation Syntax
- NM_001257386.2:c.841+3A>G
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2022-09-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003974257
- ClinVar Disease
- ABCG2-related disorder
- Observed Origin Sample
- germline
Drugs