Annotation Detail
Information
- Associated Genes
- PTPN11
- Associated Variants
-
PTPN11 p.Phe285Tyr (p.F285Y)
(
ENST00000635625.1,
ENST00000639857.2,
ENST00000690210.1,
ENST00000392597.5,
ENST00000688597.1,
ENST00000351677.7,
ENST00000687906.1 )
PTPN11 p.Phe285Tyr (p.F285Y) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 ) - Source Database
- ClinVar
- Description
- NM_002834.5(PTPN11):c.854T>A (p.Phe285Tyr) AND Cardiovascular phenotype
- ClinVar Allele ID
- 179449
- ClinVar RefSeq Alternation Syntax
- NM_002834.5:c.854T>A
- ClinVar RefSeq Alternation Syntax
- NM_080601.3:c.854T>A
- ClinVar RefSeq Alternation Syntax
- NM_001374625.1:c.851T>A
- ClinVar RefSeq Alternation Syntax
- NM_001330437.2:c.854T>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2018-08-03
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002408715
- Observed Origin Sample
- germline
Drugs