Annotation Detail

Information
Associated Genes
NF1
Associated Variants
NF1 p.Tyr235= (p.Y235=) ( ENST00000696138.1, ENST00000358273.9, ENST00000691014.1, ENST00000356175.7, ENST00000431387.8, ENST00000487476.5, ENST00000490416.2 )
NF1 p.Tyr235= (p.Y235=) ( ENST00000356175.7, ENST00000358273.9, ENST00000431387.8, ENST00000487476.5, ENST00000490416.2, ENST00000691014.1, ENST00000696138.1 )
Associated Disease
Neurofibromatosis, type 1
Source Database
ClinVar
Description
NM_001042492.3(NF1):c.705C>T (p.Tyr235=) AND Neurofibromatosis, type 1
ClinVar Allele ID
1606870
ClinVar RefSeq Alternation Syntax
NM_000267.3:c.705C>T
ClinVar RefSeq Alternation Syntax
NM_001042492.3:c.705C>T
ClinVar RefSeq Alternation Syntax
NM_001128147.3:c.705C>T
Clinical Significance Description
Likely benign
Clinical Significance Last Update
2024-01-28
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV002209125
ClinVar Disease
Neurofibromatosis, type 1
Observed Origin Sample
germline
Drugs