Annotation Detail
Information
- Associated Genes
- COMT
- Associated Variants
-
COMT p.Ala72Ser (p.A72S)
(
ENST00000361682.11,
ENST00000403184.5,
ENST00000403710.5,
ENST00000406520.7,
ENST00000407537.5,
ENST00000428707.2,
ENST00000449653.5,
ENST00000676678.1,
ENST00000678255.1,
ENST00000678769.1,
ENST00000678868.1 )
COMT p.Ala72Ser (p.A72S) ( ENST00000361682.11, ENST00000403184.5, ENST00000403710.5, ENST00000406520.7, ENST00000407537.5, ENST00000428707.2, ENST00000449653.5, ENST00000676678.1, ENST00000678255.1, ENST00000678769.1, ENST00000678868.1 ) - Associated Disease
- Schizophrenia, susceptibility to
- Source Database
- ClinVar
- Description
- NM_000754.4(COMT):c.214G>T (p.Ala72Ser) AND Schizophrenia, susceptibility to
- ClinVar Allele ID
- 32631
- ClinVar RefSeq Alternation Syntax
- NM_001135162.2:c.214G>T
- ClinVar RefSeq Alternation Syntax
- NM_001362828.2:c.214G>T
- ClinVar RefSeq Alternation Syntax
- NM_001135161.2:c.214G>T
- ClinVar RefSeq Alternation Syntax
- NM_000754.4:c.214G>T
- ClinVar RefSeq Alternation Syntax
- NM_007310.3:c.64G>T
- Clinical Significance Description
- risk factor
- Clinical Significance Last Update
- 2005-03-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000019157
- ClinVar Disease
- Schizophrenia, susceptibility to
- Observed Origin Sample
- germline
- Pubmed
- 15645182
Drugs