Annotation Detail
Information
- Associated Genes
- CD36
- Associated Variants
-
Multiple alleles
(
ENST00000309881.11,
ENST00000435819.5,
ENST00000534394.5 )
Multiple alleles ( ENST00000309881.11, ENST00000435819.5, ENST00000534394.5 )
CD36 c.1125+144G>A ( ENST00000309881.11, ENST00000394788.7, ENST00000432207.5, ENST00000433696.6, ENST00000435819.5, ENST00000447544.7, ENST00000534394.5, ENST00000538969.5, ENST00000544133.5 )
CD36 c.*651C>G ( ENST00000447544.7 )
Multiple alleles ( ENST00000309881.11, ENST00000435819.5, ENST00000534394.5 )
Multiple alleles ( ENST00000309881.11, ENST00000435819.5, ENST00000534394.5 )
CD36 c.1125+144G>A ( ENST00000309881.11, ENST00000394788.7, ENST00000432207.5, ENST00000433696.6, ENST00000435819.5, ENST00000447544.7, ENST00000534394.5, ENST00000538969.5, ENST00000544133.5 )
CD36 c.*651C>G ( ENST00000447544.7 ) - Associated Disease
- Coronary heart disease, susceptibility to, 7
- Source Database
- ClinVar
- Description
- Multiple alleles AND Coronary heart disease, susceptibility to, 7
- ClinVar Allele ID
- 480404
- ClinVar Allele ID
- 480403
- ClinVar Allele ID
- 480402
- ClinVar Allele ID
- 480401
- ClinVar RefSeq Alternation Syntax
- NM_001371074.1:c.1125+144G>A
- ClinVar RefSeq Alternation Syntax
- NM_000072.3:c.1125+144G>A
- ClinVar RefSeq Alternation Syntax
- NM_001371075.1:c.*651C>G
- ClinVar RefSeq Alternation Syntax
- NM_001371075.1:c.-184+11225A>G
- ClinVar RefSeq Alternation Syntax
- NM_001371074.1:c.-180+13244G>A
- ClinVar RefSeq Alternation Syntax
- NM_001127444.2:c.1125+144G>A
- ClinVar RefSeq Alternation Syntax
- NM_001289911.2:c.-109+11225A>G
- ClinVar RefSeq Alternation Syntax
- NM_001001548.3:c.1125+144G>A
- ClinVar RefSeq Alternation Syntax
- NM_001371081.1:c.-666+11225A>G
- ClinVar RefSeq Alternation Syntax
- NM_001127443.2:c.1125+144G>A
- ClinVar RefSeq Alternation Syntax
- NM_001371074.1:c.-180+11225A>G
- ClinVar RefSeq Alternation Syntax
- NM_001371081.1:c.-666+13244G>A
- ClinVar RefSeq Alternation Syntax
- NM_001001548.3:c.*651C>G
- ClinVar RefSeq Alternation Syntax
- NM_001371077.1:c.1125+144G>A
- ClinVar RefSeq Alternation Syntax
- NM_001001547.3:c.-184+13244G>A
- ClinVar RefSeq Alternation Syntax
- NM_001371081.1:c.660+144G>A
- ClinVar RefSeq Alternation Syntax
- NM_001289909.1:c.945+144G>A
- ClinVar RefSeq Alternation Syntax
- NM_001001547.3:c.-184+11225A>G
- ClinVar RefSeq Alternation Syntax
- NM_001371075.1:c.1125+144G>A
- ClinVar RefSeq Alternation Syntax
- NM_001289911.2:c.897+144G>A
- ClinVar RefSeq Alternation Syntax
- NM_001371078.1:c.1125+144G>A
- ClinVar RefSeq Alternation Syntax
- NM_001371080.1:c.660+144G>A
- ClinVar RefSeq Alternation Syntax
- NM_001289911.2:c.-109+13244G>A
- ClinVar RefSeq Alternation Syntax
- NM_001371079.1:c.1023+144G>A
- ClinVar RefSeq Alternation Syntax
- NM_001371075.1:c.-184+13244G>A
- ClinVar RefSeq Alternation Syntax
- NM_001371077.1:c.*651C>G
- ClinVar RefSeq Alternation Syntax
- NM_001371080.1:c.-185+13244G>A
- ClinVar RefSeq Alternation Syntax
- NM_001289908.1:c.1008+144G>A
- ClinVar RefSeq Alternation Syntax
- NM_001371080.1:c.-185+11225A>G
- ClinVar RefSeq Alternation Syntax
- NM_001001547.3:c.1125+144G>A
- Clinical Significance Description
- risk factor
- Clinical Significance Last Update
- 2004-10-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000014500
- ClinVar Disease
- Coronary heart disease, susceptibility to, 7
- Observed Origin Sample
- germline
- Pubmed
- 15282206
Drugs