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 c.6007-5A>G ( ENST00000356175.7, ENST00000358273.9, ENST00000684826.1, ENST00000687027.1, ENST00000691014.1, ENST00000693617.1, ENST00000696138.1 )
NF1 p.Leu2088Pro (p.L2088P) ( ENST00000684826.1, ENST00000358273.9, ENST00000693617.1, ENST00000696138.1, ENST00000691014.1, ENST00000356175.7, ENST00000687027.1 )
NF1 c.7189+3A>C ( ENST00000691014.1, ENST00000356175.7, ENST00000687027.1, ENST00000693617.1, ENST00000358273.9, ENST00000696138.1, ENST00000684826.1 )
NF1 p.Leu357Pro (p.L357P) ( ENST00000356175.7, ENST00000358273.9, ENST00000431387.8, ENST00000487476.5, ENST00000691014.1, ENST00000696138.1 )
NF1 c.6007-5A>G ( ENST00000356175.7, ENST00000358273.9, ENST00000684826.1, ENST00000687027.1, ENST00000691014.1, ENST00000693617.1, ENST00000696138.1 )
NF1 p.Leu2088Pro (p.L2088P) ( ENST00000356175.7, ENST00000358273.9, ENST00000684826.1, ENST00000687027.1, ENST00000691014.1, ENST00000693617.1, ENST00000696138.1 )
NF1 c.7189+3A>C ( ENST00000356175.7, ENST00000358273.9, ENST00000684826.1, ENST00000687027.1, ENST00000691014.1, ENST00000693617.1, ENST00000696138.1 )
NF1 p.Tyr2702Ter (p.Y2702*)
NF1 p.Tyr2702Ter (p.Y2702*) - Associated Disease
- Neurofibromatosis, familial spinal
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.360814325616241
- Year of publication
- NA
Drugs