Annotation Detail
Information
- Associated Genes
- NF1
- Associated Variants
-
NF1 p.Thr586ValfsTer18 (p.T586Vfs*18)
(
ENST00000358273.9,
ENST00000696138.1,
ENST00000691014.1,
ENST00000356175.7 )
NF1 p.Thr586ValfsTer18 (p.T586Vfs*18) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 ) - Associated Disease
- neurofibroma
- Source Database
- ClinVar
- Description
- NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs) AND Neurofibroma
- ClinVar Allele ID
- 184559
- ClinVar RefSeq Alternation Syntax
- NM_001042492.3:c.1756_1759del
- ClinVar RefSeq Alternation Syntax
- NM_000267.3:c.1756_1759del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2019-06-29
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000787330
- ClinVar Disease
- Neurofibroma
- Observed Origin Sample
- germline
Drugs