Annotation Detail
Information
- Associated Genes
- TIRAP
- Associated Variants
-
TIRAP p.Ser180Leu (p.S180L)
(
ENST00000700490.1,
ENST00000700495.1,
ENST00000700492.1,
ENST00000700491.1,
ENST00000700488.1,
ENST00000392679.6,
ENST00000392680.6,
ENST00000700489.1,
ENST00000392678.7 )
TIRAP p.Ser180Leu (p.S180L) ( ENST00000392678.7, ENST00000392679.6, ENST00000392680.6, ENST00000700488.1, ENST00000700489.1, ENST00000700490.1, ENST00000700491.1, ENST00000700492.1, ENST00000700495.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001318777.2(TIRAP):c.539C>T (p.Ser180Leu) AND not provided
- ClinVar Allele ID
- 19506
- ClinVar RefSeq Alternation Syntax
- NM_001318776.2:c.539C>T
- ClinVar RefSeq Alternation Syntax
- NM_001318777.2:c.539C>T
- ClinVar RefSeq Alternation Syntax
- NM_148910.3:c.539C>T
- ClinVar RefSeq Alternation Syntax
- NM_001039661.2:c.539C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2020-07-15
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001723536
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs