Annotation Detail
Information
- Associated Genes
- NF1
- Associated Variants
-
NF1 p.Leu1953Pro (p.L1953P)
(
ENST00000684826.1,
ENST00000358273.9,
ENST00000693617.1,
ENST00000696138.1,
ENST00000356175.7,
ENST00000691014.1,
ENST00000687027.1 )
NF1 p.Leu1953Pro (p.L1953P) ( ENST00000356175.7, ENST00000358273.9, ENST00000684826.1, ENST00000687027.1, ENST00000691014.1, ENST00000693617.1, ENST00000696138.1 ) - Associated Disease
- neurofibromatosis 1
- Source Database
- DisGeNET
- Description
- A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations.
- Pubmed
- 2114220
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.670236158889378
- Year of publication
- 1990
Drugs