Annotation Detail
Information
- Associated Genes
- NF1
- Associated Variants
-
NF1 p.Leu847Pro (p.L847P)
(
ENST00000358273.9,
ENST00000691014.1,
ENST00000696138.1,
ENST00000356175.7 )
NF1 p.Leu847Pro (p.L847P) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 ) - Associated Disease
- Hereditary cancer-predisposing syndrome
- Source Database
- ClinVar
- Description
- NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) AND Hereditary cancer-predisposing syndrome
- ClinVar Allele ID
- 79214
- ClinVar RefSeq Alternation Syntax
- NM_001042492.3:c.2540T>C
- ClinVar RefSeq Alternation Syntax
- NM_000267.3:c.2540T>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2015-04-16
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000492608
- ClinVar Disease
- Hereditary cancer-predisposing syndrome
- Observed Origin Sample
- germline
Drugs