Annotation Detail
Information
- Associated Genes
- ACKR1
- Associated Variants
-
ACKR1 c.-111T>C
(
ENST00000368121.6,
ENST00000368122.4,
ENST00000714112.1 )
ACKR1 c.-111T>C ( ENST00000368121.6, ENST00000368122.4, ENST00000714112.1 ) - Source Database
- ClinVar
- Description
- NM_002036.3(ACKR1):c.-67T>C AND DUFFY BLOOD GROUP SYSTEM, FY(a-b-) PHENOTYPE
- Observed Origin Sample
- germline
- ClinVar Allele ID
- 33434
- ClinVar RefSeq Alternation Syntax
- NM_002036.4:c.-67T>C
- ClinVar RefSeq Alternation Syntax
- NM_001122951.3:c.-111T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2010-01-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000000006
- Pubmed
- 8547665
- Pubmed
- 18621010
- Pubmed
- 20932074
- Pubmed
- 19180233
- Pubmed
- 8651934
- Pubmed
- 17304246
- Pubmed
- 10791881
- Pubmed
- 7663520
- Pubmed
- 18179887
- Pubmed
- 19620399
- Pubmed
- 10570183
Drugs