Annotation Detail
Information
- Associated Genes
- NF1
- Associated Variants
-
NF1 p.Ala2174ProfsTer20 (p.A2174Pfs*20)
(
ENST00000684826.1,
ENST00000693617.1,
ENST00000358273.9,
ENST00000696138.1,
ENST00000691014.1,
ENST00000356175.7,
ENST00000687027.1 )
NF1 p.Ala2174ProfsTer20 (p.A2174Pfs*20) ( ENST00000356175.7, ENST00000358273.9, ENST00000684826.1, ENST00000687027.1, ENST00000691014.1, ENST00000693617.1, ENST00000696138.1 ) - Associated Disease
- Hereditary cancer-predisposing syndrome
- Source Database
- ClinVar
- Description
- NM_001042492.3(NF1):c.6520_6538del (p.Ala2174fs) AND Hereditary cancer-predisposing syndrome
- ClinVar Allele ID
- 184721
- ClinVar RefSeq Alternation Syntax
- NM_001042492.3:c.6520_6538del
- ClinVar RefSeq Alternation Syntax
- NM_000267.3:c.6457_6475del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2014-12-23
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000167268
- ClinVar Disease
- Hereditary cancer-predisposing syndrome
- Observed Origin Sample
- germline
Drugs