Annotation Detail

Information

Associated Genes: COMT
Associated Variants: COMT p.Val158Met (p.V158M) ( ENST00000361682.11, ENST00000403184.5, ENST00000403710.5, ENST00000406520.7, ENST00000407537.5, ENST00000428707.2, ENST00000449653.5, ENST00000676678.1, ENST00000678255.1, ENST00000678769.1, ENST00000678868.1 )
COMT p.Val158Met (p.V158M) ( ENST00000361682.11, ENST00000403184.5, ENST00000403710.5, ENST00000406520.7, ENST00000407537.5, ENST00000428707.2, ENST00000449653.5, ENST00000676678.1, ENST00000678255.1, ENST00000678769.1, ENST00000678868.1 )
Associated Disease: CATECHOL-O-METHYLTRANSFERASE POLYMORPHISM
Source Database: ClinVar
Description: NM_000754.4(COMT):c.472G>A (p.Val158Met) AND CATECHOL-O-METHYLTRANSFERASE POLYMORPHISM
Pubmed: 16513880
ClinVar Allele ID: 32630
ClinVar RefSeq Alternation Syntax: NM_001362828.2:c.472G>A
ClinVar RefSeq Alternation Syntax: NM_000754.4:c.472G>A
ClinVar RefSeq Alternation Syntax: NM_001135161.2:c.472G>A
ClinVar RefSeq Alternation Syntax: NM_007310.3:c.322G>A
ClinVar RefSeq Alternation Syntax: NM_001135162.2:c.472G>A
Clinical Significance Description: Benign
Clinical Significance Last Update: 2011-01-01
Clinical Significance Review Status: no assertion criteria provided
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV000019156
ClinVar Disease: CATECHOL-O-METHYLTRANSFERASE POLYMORPHISM
Observed Origin Sample: germline
Pubmed: 15457404
Pubmed: 10459407
Pubmed: 8941353
Pubmed: 7304673
Pubmed: 12611827
Pubmed: 12716966
Pubmed: 12402217
Pubmed: 16542388
Pubmed: 15821730
Pubmed: 7585135
Pubmed: 15824744
Pubmed: 11502905
Pubmed: 15935994
Pubmed: 11925305
Pubmed: 11171904
Pubmed: 12192614
Pubmed: 11381111
Pubmed: 15169701
Pubmed: 16043133
Pubmed: 16130008
Pubmed: 15457497
Pubmed: 11772685
Pubmed: 10395222
Pubmed: 16135635
Pubmed: 8807664
Pubmed: 15645182
Pubmed: 8886163
Pubmed: 12359690
Pubmed: 16275815
Pubmed: 12436243
Pubmed: 14966473
Pubmed: 15652872
Pubmed: 12842306
Pubmed: 17504906
Pubmed: 9110364
Pubmed: 21280081
Pubmed: 12595695

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