Annotation Detail
Information
- Associated Genes
- LITAF
- Associated Variants
-
LITAF p.Val144Met (p.V144M)
(
ENST00000571688.5,
ENST00000574763.5,
ENST00000576036.5,
ENST00000571459.5,
ENST00000413364.6,
ENST00000572255.5,
ENST00000339430.9,
ENST00000570904.5,
ENST00000622633.5 )
LITAF p.Pro135Arg (p.P135R) ( ENST00000413364.6, ENST00000572255.5, ENST00000622633.5, ENST00000570904.5, ENST00000339430.9, ENST00000571459.5, ENST00000576036.5, ENST00000571688.5, ENST00000574763.5 )
LITAF p.Pro135Ser (p.P135S) ( ENST00000571459.5, ENST00000572255.5, ENST00000413364.6, ENST00000622633.5, ENST00000570904.5, ENST00000339430.9, ENST00000571688.5, ENST00000574763.5, ENST00000576036.5 )
LITAF p.Pro135Thr (p.P135T) ( ENST00000574763.5, ENST00000571688.5, ENST00000576036.5, ENST00000571459.5, ENST00000622633.5, ENST00000570904.5, ENST00000339430.9, ENST00000413364.6, ENST00000572255.5 )
LITAF p.Ala129Thr (p.A129T) ( ENST00000571688.5, ENST00000574763.5, ENST00000576036.5, ENST00000571459.5, ENST00000413364.6, ENST00000572255.5, ENST00000570904.5, ENST00000339430.9, ENST00000622633.5 )
LITAF p.Leu122Val (p.L122V) ( ENST00000572255.5, ENST00000413364.6, ENST00000339430.9, ENST00000570904.5, ENST00000622633.5, ENST00000571459.5, ENST00000571976.1, ENST00000576036.5, ENST00000571688.5, ENST00000574763.5 )
LITAF p.Trp116Gly (p.W116G) ( ENST00000413364.6, ENST00000572255.5, ENST00000339430.9, ENST00000570904.5, ENST00000622633.5, ENST00000571459.5, ENST00000571976.1, ENST00000576036.5, ENST00000571688.5, ENST00000574763.5 )
LITAF p.Thr115Asn (p.T115N) ( ENST00000574763.5, ENST00000571688.5, ENST00000576036.5, ENST00000571976.1, ENST00000571459.5, ENST00000339430.9, ENST00000570904.5, ENST00000622633.5, ENST00000413364.6, ENST00000572255.5 )
LITAF p.Gly112Ser (p.G112S) ( ENST00000413364.6, ENST00000572255.5, ENST00000570904.5, ENST00000339430.9, ENST00000622633.5, ENST00000571459.5, ENST00000571976.1, ENST00000576036.5, ENST00000571688.5, ENST00000574763.5 )
LITAF p.Ala111Gly (p.A111G) ( ENST00000413364.6, ENST00000572255.5, ENST00000622633.5, ENST00000570904.5, ENST00000339430.9, ENST00000571976.1, ENST00000571459.5, ENST00000576036.5, ENST00000571688.5, ENST00000574763.5 )
LITAF p.Val144Met (p.V144M) ( ENST00000339430.9, ENST00000413364.6, ENST00000570904.5, ENST00000571459.5, ENST00000571688.5, ENST00000572255.5, ENST00000574763.5, ENST00000576036.5, ENST00000622633.5 )
LITAF p.Pro135Arg (p.P135R) ( ENST00000339430.9, ENST00000413364.6, ENST00000570904.5, ENST00000571459.5, ENST00000571688.5, ENST00000572255.5, ENST00000574763.5, ENST00000576036.5, ENST00000622633.5 )
LITAF p.Pro135Ser (p.P135S) ( ENST00000339430.9, ENST00000413364.6, ENST00000570904.5, ENST00000571459.5, ENST00000571688.5, ENST00000572255.5, ENST00000574763.5, ENST00000576036.5, ENST00000622633.5 )
LITAF p.Pro135Thr (p.P135T) ( ENST00000339430.9, ENST00000413364.6, ENST00000570904.5, ENST00000571459.5, ENST00000571688.5, ENST00000572255.5, ENST00000574763.5, ENST00000576036.5, ENST00000622633.5 )
LITAF p.Ala129Thr (p.A129T) ( ENST00000339430.9, ENST00000413364.6, ENST00000570904.5, ENST00000571459.5, ENST00000571688.5, ENST00000572255.5, ENST00000574763.5, ENST00000576036.5, ENST00000622633.5 )
LITAF p.Leu122Val (p.L122V) ( ENST00000339430.9, ENST00000413364.6, ENST00000570904.5, ENST00000571459.5, ENST00000571688.5, ENST00000571976.1, ENST00000572255.5, ENST00000574763.5, ENST00000576036.5, ENST00000622633.5 )
LITAF p.Trp116Gly (p.W116G) ( ENST00000339430.9, ENST00000413364.6, ENST00000570904.5, ENST00000571459.5, ENST00000571688.5, ENST00000571976.1, ENST00000572255.5, ENST00000574763.5, ENST00000576036.5, ENST00000622633.5 )
LITAF p.Thr115Asn (p.T115N) ( ENST00000339430.9, ENST00000413364.6, ENST00000570904.5, ENST00000571459.5, ENST00000571688.5, ENST00000571976.1, ENST00000572255.5, ENST00000574763.5, ENST00000576036.5, ENST00000622633.5 )
LITAF p.Gly112Ser (p.G112S) ( ENST00000339430.9, ENST00000413364.6, ENST00000570904.5, ENST00000571459.5, ENST00000571688.5, ENST00000571976.1, ENST00000572255.5, ENST00000574763.5, ENST00000576036.5, ENST00000622633.5 )
LITAF p.Ala111Gly (p.A111G) ( ENST00000339430.9, ENST00000413364.6, ENST00000570904.5, ENST00000571459.5, ENST00000571688.5, ENST00000571976.1, ENST00000572255.5, ENST00000574763.5, ENST00000576036.5, ENST00000622633.5 ) - Associated Disease
- Charcot-Marie-Tooth disease, Type 1C
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.481085767488321
- Year of publication
- NA
Drugs