Annotation Detail
Information
- Associated Genes
- PTEN
- Associated Variants
-
PTEN p.His123Tyr (p.H123Y)
(
ENST00000700029.2,
ENST00000371953.8,
ENST00000688308.1,
ENST00000472832.3,
ENST00000700021.1,
ENST00000713839.1 )
PTEN p.His123Tyr (p.H123Y) ( ENST00000472832.3, ENST00000688308.1, ENST00000700021.1, ENST00000700029.2, ENST00000713839.1, ENST00000371953.8 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000314.8(PTEN):c.367C>T (p.His123Tyr) AND not provided
- ClinVar Allele ID
- 187352
- ClinVar RefSeq Alternation Syntax
- NM_000314.8:c.367C>T
- ClinVar RefSeq Alternation Syntax
- NM_001304718.2:c.-384C>T
- ClinVar RefSeq Alternation Syntax
- NM_001304717.5:c.886C>T
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2023-09-14
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000169876
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs