Annotation Detail
Information
- Associated Genes
- NF1
- Associated Variants
-
NF1 p.Leu1167Ter (p.L1167*)
(
ENST00000356175.7,
ENST00000696138.1,
ENST00000691014.1,
ENST00000358273.9 )
NF1 p.Leu1167Ter (p.L1167*) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 ) - Associated Disease
- Hereditary cancer-predisposing syndrome
- Source Database
- ClinVar
- Description
- NM_001042492.3(NF1):c.3500T>G (p.Leu1167Ter) AND multiple conditions
- ClinVar Allele ID
- 186251
- ClinVar RefSeq Alternation Syntax
- NM_000267.3:c.3500T>G
- ClinVar RefSeq Alternation Syntax
- NM_001042492.3:c.3500T>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-04-18
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002453564
- ClinVar Disease
- Hereditary cancer-predisposing syndrome
- Observed Origin Sample
- germline
Drugs