Annotation Detail
Information
- Associated Genes
- PTEN
- Associated Variants
-
PTEN p.Arg173His (p.R173H)
(
ENST00000472832.3,
ENST00000371953.8,
ENST00000688308.1,
ENST00000700021.1,
ENST00000700029.2,
ENST00000713839.1 )
PTEN p.Arg173His (p.R173H) ( ENST00000371953.8, ENST00000472832.3, ENST00000688308.1, ENST00000700021.1, ENST00000700029.2, ENST00000713839.1 ) - Associated Disease
- Neoplasm of brain
- Source Database
- ClinVar
- Description
- NM_000314.8(PTEN):c.518G>A (p.Arg173His) AND Neoplasm of brain
- ClinVar Allele ID
- 362911
- ClinVar RefSeq Alternation Syntax
- NM_001304717.5:c.1037G>A
- ClinVar RefSeq Alternation Syntax
- NM_001304718.2:c.-74G>A
- ClinVar RefSeq Alternation Syntax
- NM_000314.8:c.518G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2015-07-14
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000432256
- ClinVar Disease
- Neoplasm of brain
- Observed Origin Sample
- somatic
Drugs