Annotation Detail
Information
- Associated Genes
- CX3CR1
- Associated Variants
-
CX3CR1 p.Thr312Met (p.T312M)
(
ENST00000358309.3,
ENST00000399220.3,
ENST00000541347.5,
ENST00000542107.5 )
CX3CR1 p.Val281Ile (p.V281I) ( ENST00000358309.3, ENST00000399220.3, ENST00000541347.5, ENST00000542107.5 )
CX3CR1 p.Thr312Met (p.T312M) ( ENST00000358309.3, ENST00000399220.3, ENST00000541347.5, ENST00000542107.5 )
CX3CR1 p.Val281Ile (p.V281I) ( ENST00000358309.3, ENST00000399220.3, ENST00000541347.5, ENST00000542107.5 ) - Associated Disease
- Human immunodeficiency virus type 1, rapid progression to AIDS
- Source Database
- ClinVar
- Description
- CX3CR1:c.[841G>A;935C>T] (p.Val294Ile;Thr280Met) AND Human immunodeficiency virus type 1, rapid progression to AIDS
- ClinVar Allele ID
- 23191
- ClinVar Allele ID
- 36774
- ClinVar RefSeq Alternation Syntax
- NM_001171174.1:c.935C>T
- ClinVar RefSeq Alternation Syntax
- NM_001171174.1:c.841G>A
- ClinVar RefSeq Alternation Syntax
- NM_001337.4:c.745G>A
- ClinVar RefSeq Alternation Syntax
- NM_001171172.2:c.839C>T
- ClinVar RefSeq Alternation Syntax
- NM_001171171.2:c.745G>A
- ClinVar RefSeq Alternation Syntax
- NM_001171171.2:c.839C>T
- ClinVar RefSeq Alternation Syntax
- NM_001171172.2:c.745G>A
- ClinVar RefSeq Alternation Syntax
- NM_001337.4:c.839C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2014-09-05
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000008629
- ClinVar Disease
- Human immunodeficiency virus type 1, rapid progression to AIDS
- Observed Origin Sample
- germline
- Pubmed
- 12697743
- Pubmed
- 15208270
- Pubmed
- 11264153
- Pubmed
- 10731151
- Pubmed
- 17909628
- Pubmed
- 23716478
Drugs