Annotation Detail
Information
- Associated Genes
- TP53 WRAP53
- Associated Variants
-
WRAP53 p.Phe150= (p.F150=)
(
ENST00000698742.1,
ENST00000316024.9,
ENST00000431639.6,
ENST00000534050.5,
ENST00000698746.1,
ENST00000396463.7,
ENST00000457584.6 )
WRAP53 p.Phe150= (p.F150=) ( ENST00000316024.9, ENST00000396463.7, ENST00000431639.6, ENST00000457584.6, ENST00000534050.5, ENST00000698742.1, ENST00000698746.1 ) - Associated Disease
- dyskeratosis congenita
- Source Database
- ClinVar
- Description
- NM_001143992.2(WRAP53):c.450C>T (p.Phe150=) AND Dyskeratosis congenita
- ClinVar Allele ID
- 256467
- ClinVar RefSeq Alternation Syntax
- NM_001143991.2:c.450C>T
- ClinVar RefSeq Alternation Syntax
- NM_001143990.2:c.450C>T
- ClinVar RefSeq Alternation Syntax
- NM_001143992.2:c.450C>T
- ClinVar RefSeq Alternation Syntax
- NM_018081.2:c.450C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2015-10-08
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002338806
- ClinVar Disease
- Dyskeratosis congenita
- Observed Origin Sample
- germline
Drugs