Annotation Detail
Information
- Associated Genes
- ABCG2
- Associated Variants
-
ABCG2 p.Val12Met (p.V12M)
(
ENST00000237612.8,
ENST00000515655.5,
ENST00000650821.1 )
ABCG2 p.Val12Met (p.V12M) ( ENST00000237612.8, ENST00000515655.5, ENST00000650821.1 ) - Source Database
- ClinVar
- Description
- NM_004827.3(ABCG2):c.34G>A (p.Val12Met) AND Blood group, Junior system
- ClinVar Allele ID
- 39343
- ClinVar RefSeq Alternation Syntax
- NM_001348989.2:c.34G>A
- ClinVar RefSeq Alternation Syntax
- NM_001257386.2:c.34G>A
- ClinVar RefSeq Alternation Syntax
- NM_001348986.1:c.34G>A
- ClinVar RefSeq Alternation Syntax
- NM_001348985.1:c.34G>A
- ClinVar RefSeq Alternation Syntax
- NM_004827.3:c.34G>A
- ClinVar RefSeq Alternation Syntax
- NM_001348987.1:c.34G>A
- ClinVar RefSeq Alternation Syntax
- NM_001348988.1:c.34G>A
- Clinical Significance Description
- Affects
- Clinical Significance Last Update
- 2012-01-15
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000023338
- Observed Origin Sample
- germline
- Pubmed
- 16702730
- Pubmed
- 22246507
- Pubmed
- 20368174
Drugs