Annotation Detail

Information
Associated Genes
PTPN11
Associated Variants
PTPN11 p.Glu139Asp (p.E139D) ( ENST00000351677.7, ENST00000687906.1, ENST00000690210.1, ENST00000635625.1, ENST00000639857.2, ENST00000688597.1, ENST00000392597.5 )
PTPN11 p.Glu139Asp (p.E139D) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_002834.5(PTPN11):c.417G>T (p.Glu139Asp) AND not provided
Observed Origin Sample
germline
ClinVar Allele ID
48982
ClinVar RefSeq Alternation Syntax
NM_001330437.2:c.417G>T
ClinVar RefSeq Alternation Syntax
NM_001374625.1:c.414G>T
ClinVar RefSeq Alternation Syntax
NM_002834.5:c.417G>T
ClinVar RefSeq Alternation Syntax
NM_080601.3:c.417G>T
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2016-09-20
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000212894
ClinVar Disease
not provided
Drugs