Annotation Detail

Information

Associated Genes: CCR5 CCR5AS
Associated Variants: CCR5 p.Ser185IlefsTer32 (p.S185Ifs*32) ( ENST00000292303.5, ENST00000445772.1 )
CCR5 p.Ser185IlefsTer32 (p.S185Ifs*32) ( ENST00000292303.5, ENST00000445772.1 )
Associated Disease: Multiple sclerosis modifier of disease progression
Source Database: ClinVar
Description: NM_001394783.1(CCR5):c.554_585del (p.Ser185fs) AND Multiple sclerosis modifier of disease progression
Observed Origin Sample: germline
Pubmed: 8751444
Pubmed: 9207783
Pubmed: 8756719
Pubmed: 11403814
Pubmed: 9466996
Pubmed: 11781692
Pubmed: 16418398
Pubmed: 11081537
Pubmed: 15744032
Pubmed: 16216086
Pubmed: 9600249
Pubmed: 19017985
Pubmed: 8639485
Pubmed: 9511755
Pubmed: 11403804
Pubmed: 12874407
Pubmed: 11517319
Pubmed: 10803840
Pubmed: 9768627
Pubmed: 9140404
Pubmed: 9055842
Pubmed: 10615909
Pubmed: 19073967
Pubmed: 10520641
Pubmed: 16248677
Pubmed: 15863470
Pubmed: 9585595
Pubmed: 9132277
ClinVar Allele ID: 23223
ClinVar RefSeq Alternation Syntax: NM_001394783.1:c.554_585del
ClinVar RefSeq Alternation Syntax: NM_000579.4:c.554_585del
ClinVar RefSeq Alternation Syntax: NM_001100168.2:c.554_585del
Clinical Significance Description: risk factor
Clinical Significance Last Update: 2008-12-01
Clinical Significance Review Status: no assertion criteria provided
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV000008666
ClinVar Disease: Multiple sclerosis modifier of disease progression

Drugs