Annotation Detail
Information
- Associated Genes
- LZTR1
- Associated Variants
-
LZTR1 p.Gln10ArgfsTer15 (p.Q10Rfs*15)
(
ENST00000646124.2,
ENST00000700578.1 )
LZTR1 p.Thr783ArgfsTer5 (p.T783Rfs*5) ( ENST00000646124.2, ENST00000700578.1 )
LZTR1 p.Gln10ArgfsTer15 (p.Q10Rfs*15) ( ENST00000646124.2, ENST00000700578.1 )
LZTR1 p.Thr783ArgfsTer5 (p.T783Rfs*5) ( ENST00000646124.2, ENST00000700578.1 )
LZTR1 c.264-13G>A ( ENST00000646124.2, ENST00000700578.1 )
LZTR1 p.Ser122Leu (p.S122L) ( ENST00000646124.2, ENST00000700578.1 )
LZTR1 p.Arg466Gln (p.R466Q) ( ENST00000646124.2, ENST00000700578.1 )
LZTR1 p.Arg688Cys (p.R688C) ( ENST00000646124.2, ENST00000700578.1 )
LZTR1 c.264-13G>A ( ENST00000646124.2, ENST00000700578.1 )
LZTR1 p.Ser122Leu (p.S122L) ( ENST00000646124.2, ENST00000700578.1 )
LZTR1 p.Arg466Gln (p.R466Q) ( ENST00000646124.2, ENST00000700578.1 )
LZTR1 p.Arg688Cys (p.R688C) ( ENST00000646124.2, ENST00000700578.1 ) - Associated Disease
- schwannomatosis 2
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.24
- Year of publication
- NA
Drugs