Annotation Detail
Information
- Associated Genes
- PTEN
- Associated Variants
-
PTEN p.Thr131Ile (p.T131I)
(
ENST00000371953.8,
ENST00000472832.3,
ENST00000688308.1,
ENST00000700021.1,
ENST00000700029.2,
ENST00000713839.1 )
PTEN p.Thr131Ile (p.T131I) ( ENST00000371953.8, ENST00000472832.3, ENST00000688308.1, ENST00000700021.1, ENST00000700029.2, ENST00000713839.1 ) - Associated Disease
- macrocephaly-autism syndrome
- Source Database
- ClinVar
- Description
- NM_000314.8(PTEN):c.392C>T (p.Thr131Ile) AND Macrocephaly-autism syndrome
- ClinVar Allele ID
- 48268
- ClinVar RefSeq Alternation Syntax
- NM_000314.8:c.392C>T
- ClinVar RefSeq Alternation Syntax
- NM_001304717.5:c.911C>T
- ClinVar RefSeq Alternation Syntax
- NM_001304718.2:c.-359C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2012-12-21
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000032873
- ClinVar Disease
- Macrocephaly-autism syndrome
- Observed Origin Sample
- germline
- Pubmed
- 23160955
Drugs