Annotation Detail
Information
- Associated Genes
- NBEAL2
- Associated Variants
-
NBEAL2 p.Ser294Ter (p.S294*)
(
ENST00000450053.8,
ENST00000651747.1 )
NBEAL2 p.Leu388Pro (p.L388P) ( ENST00000450053.8, ENST00000651747.1 )
NBEAL2 p.Trp608Ter (p.W608*) ( ENST00000450053.8, ENST00000651747.1 )
NBEAL2 p.Glu643Val (p.E643V) ( ENST00000450053.8, ENST00000651747.1 )
NBEAL2 p.Arg901Ter (p.R901*) ( ENST00000450053.8, ENST00000651747.1 )
NBEAL2 p.Pro2100Leu (p.P2100L) ( ENST00000450053.8, ENST00000651747.1 )
NBEAL2 p.Ser294Ter (p.S294*) ( ENST00000450053.8, ENST00000651747.1 )
NBEAL2 p.Leu388Pro (p.L388P) ( ENST00000450053.8, ENST00000651747.1 )
NBEAL2 p.Trp608Ter (p.W608*) ( ENST00000450053.8, ENST00000651747.1 )
NBEAL2 p.Glu643Val (p.E643V) ( ENST00000450053.8, ENST00000651747.1 )
NBEAL2 p.Arg901Ter (p.R901*) ( ENST00000450053.8, ENST00000651747.1 )
NBEAL2 p.Pro2100Leu (p.P2100L) ( ENST00000450053.8, ENST00000651747.1 )
NBEAL2 p.Ala1805GlyfsTer59 (p.A1805Gfs*59)
NBEAL2 p.Ala1805GlyfsTer59 (p.A1805Gfs*59) - Associated Disease
- gray platelet syndrome
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.561357209360401
- Year of publication
- NA
Drugs