Annotation Detail
Information
- Associated Genes
- NF1
- Associated Variants
-
NF1 p.Glu595AsnfsTer14 (p.E595Nfs*14)
(
ENST00000696138.1,
ENST00000358273.9,
ENST00000691014.1,
ENST00000356175.7 )
NF1 p.Glu595AsnfsTer14 (p.E595Nfs*14) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_001042492.3(NF1):c.1783_1784del (p.Glu595fs) AND not specified
- ClinVar Allele ID
- 186246
- ClinVar RefSeq Alternation Syntax
- NM_000267.3:c.1783_1784del
- ClinVar RefSeq Alternation Syntax
- NM_001042492.3:c.1783_1784del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2019-01-18
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001002339
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs