Annotation Detail
Information
- Associated Genes
- PTEN
- Associated Variants
-
PTEN p.Tyr68His (p.Y68H)
(
ENST00000700021.1,
ENST00000371953.8,
ENST00000472832.3,
ENST00000688308.1,
ENST00000700029.2,
ENST00000713839.1 )
PTEN p.Tyr68His (p.Y68H) ( ENST00000371953.8, ENST00000472832.3, ENST00000688308.1, ENST00000700021.1, ENST00000700029.2, ENST00000713839.1 ) - Associated Disease
- macrocephaly-autism syndrome Cowden syndrome 1
- Source Database
- ClinVar
- Description
- NM_000314.8(PTEN):c.202T>C (p.Tyr68His) AND multiple conditions
- ClinVar Allele ID
- 187338
- ClinVar RefSeq Alternation Syntax
- NM_001304717.5:c.721T>C
- ClinVar RefSeq Alternation Syntax
- NM_000314.8:c.202T>C
- ClinVar RefSeq Alternation Syntax
- NM_001304718.2:c.-541-5496T>C
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003313047
- ClinVar Disease
- Cowden syndrome 1
- ClinVar Disease
- Macrocephaly-autism syndrome
- Observed Origin Sample
- unknown
Drugs