Annotation Detail
Information
- Associated Genes
- NF1
- Associated Variants
-
NF1 p.Arg1970Ter (p.R1970*)
(
ENST00000684826.1,
ENST00000358273.9,
ENST00000693617.1,
ENST00000696138.1,
ENST00000691014.1,
ENST00000356175.7,
ENST00000687027.1 )
NF1 p.Arg1970Ter (p.R1970*) ( ENST00000356175.7, ENST00000358273.9, ENST00000684826.1, ENST00000687027.1, ENST00000691014.1, ENST00000693617.1, ENST00000696138.1 ) - Associated Disease
- Neurofibromatosis, type 1
- Source Database
- ClinVar
- Description
- NM_001042492.3(NF1):c.5908A>T (p.Arg1970Ter) AND Neurofibromatosis, type 1
- ClinVar Allele ID
- 15374
- ClinVar RefSeq Alternation Syntax
- NM_000267.3:c.5845A>T
- ClinVar RefSeq Alternation Syntax
- NM_001042492.3:c.5908A>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1994-04-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000000363
- ClinVar Disease
- Neurofibromatosis, type 1
- Observed Origin Sample
- germline
- Pubmed
- 1757093
- Pubmed
- 8069310
Drugs