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
- schizophrenia
- Source Database
- ClinVar
- Description
- NM_000754.4(COMT):c.472G>A (p.Val158Met) AND Schizophrenia
- 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 Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003633481
- ClinVar Disease
- Schizophrenia
- Observed Origin Sample
- germline
Drugs