Annotation Detail
Information
- Associated Genes
- NF1
- Associated Variants
-
NF1 p.Leu357Pro (p.L357P)
(
ENST00000696138.1,
ENST00000358273.9,
ENST00000487476.5,
ENST00000431387.8,
ENST00000691014.1,
ENST00000356175.7 )
NF1 p.Leu357Pro (p.L357P) ( ENST00000356175.7, ENST00000358273.9, ENST00000431387.8, ENST00000487476.5, ENST00000691014.1, ENST00000696138.1 ) - Associated Disease
- Neurofibromatosis, familial spinal
- Source Database
- ClinVar
- Description
- NM_001042492.3(NF1):c.1070T>C (p.Leu357Pro) AND Neurofibromatosis, familial spinal
- ClinVar Allele ID
- 15407
- ClinVar RefSeq Alternation Syntax
- NM_000267.3:c.1070T>C
- ClinVar RefSeq Alternation Syntax
- NM_001042492.3:c.1070T>C
- ClinVar RefSeq Alternation Syntax
- NM_001128147.3:c.1070T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2000-03-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000000399
- ClinVar Disease
- Neurofibromatosis, familial spinal
- Observed Origin Sample
- germline
- Pubmed
- 10862084
- Pubmed
- 9132486
- Pubmed
- 10712197
Drugs