Annotation Detail
Information
- Associated Genes
- TH
- Associated Variants
-
TH p.Val112Met (p.V112M)
(
ENST00000333684.9,
ENST00000352909.8,
ENST00000381175.5,
ENST00000381178.5 )
TH p.Val112Met (p.V112M) ( ENST00000333684.9, ENST00000352909.8, ENST00000381175.5, ENST00000381178.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000360.4(TH):c.241G>A (p.Val81Met) AND not provided
- ClinVar Allele ID
- 34718
- ClinVar RefSeq Alternation Syntax
- NM_000360.4:c.241G>A
- ClinVar RefSeq Alternation Syntax
- NM_199293.3:c.322G>A
- ClinVar RefSeq Alternation Syntax
- NM_199292.3:c.334G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2017-04-14
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000710270
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs