Annotation Detail
Information
- Associated Genes
- DES
- Associated Variants
-
DES p.Ala174_Arg180del (p.A174_R180del)
(
ENST00000373960.4 )
DES p.Lys201ArgfsTer20 (p.K201Rfs*20) ( ENST00000373960.4 )
DES c.639+4_639+5delAG ( ENST00000373960.4 )
DES p.Asn366del (p.N366del) ( ENST00000373960.4 )
DES p.Ala174_Arg180del (p.A174_R180del) ( ENST00000373960.4 )
DES p.Lys201ArgfsTer20 (p.K201Rfs*20) ( ENST00000373960.4 )
DES c.639+4_639+5delAG ( ENST00000373960.4 )
DES p.Asn366del (p.N366del) ( ENST00000373960.4 )
DES p.Ser12Phe (p.S12F) ( ENST00000373960.4 )
DES p.Ser13Phe (p.S13F) ( ENST00000373960.4 )
DES p.Asn116Ser (p.N116S) ( ENST00000373960.4 )
DES c.735+1G>A ( ENST00000373960.4 )
DES c.735+1G>C ( ENST00000373960.4 )
DES c.735+3A>G ( ENST00000373960.4 )
DES p.Ala337Thr (p.A337T) ( ENST00000373960.4 )
DES p.Ala337Pro (p.A337P) ( ENST00000373960.4 )
DES p.Asn342Asp (p.N342D) ( ENST00000373960.4 )
DES p.Leu345Pro (p.L345P) ( ENST00000373960.4 )
DES p.Ala360Pro (p.A360P) ( ENST00000373960.4 )
DES p.Leu385Pro (p.L385P) ( ENST00000373960.4 )
DES p.Gln389Pro (p.Q389P) ( ENST00000373960.4 )
DES p.Asn393Ser (p.N393S) ( ENST00000373960.4 )
DES p.Asn393Ile (p.N393I) ( ENST00000373960.4 )
DES p.Arg406Trp (p.R406W) ( ENST00000373960.4 )
DES p.Pro419Ser (p.P419S) ( ENST00000373960.4 )
DES p.Arg429Ter (p.R429*) ( ENST00000373960.4 )
DES p.Thr442Ile (p.T442I) ( ENST00000373960.4 )
DES p.Ser12Phe (p.S12F) ( ENST00000373960.4 )
DES p.Ser13Phe (p.S13F) ( ENST00000373960.4 )
DES p.Asn116Ser (p.N116S) ( ENST00000373960.4 )
DES c.735+1G>A ( ENST00000373960.4 )
DES c.735+1G>C ( ENST00000373960.4 )
DES c.735+3A>G ( ENST00000373960.4 )
DES p.Ala337Thr (p.A337T) ( ENST00000373960.4 )
DES p.Ala337Pro (p.A337P) ( ENST00000373960.4 )
DES p.Asn342Asp (p.N342D) ( ENST00000373960.4 )
DES p.Leu345Pro (p.L345P) ( ENST00000373960.4 )
DES p.Ala360Pro (p.A360P) ( ENST00000373960.4 )
DES p.Leu385Pro (p.L385P) ( ENST00000373960.4 )
DES p.Gln389Pro (p.Q389P) ( ENST00000373960.4 )
DES p.Asn393Ser (p.N393S) ( ENST00000373960.4 )
DES p.Asn393Ile (p.N393I) ( ENST00000373960.4 )
DES p.Arg406Trp (p.R406W) ( ENST00000373960.4 )
DES p.Pro419Ser (p.P419S) ( ENST00000373960.4 )
DES p.Arg429Ter (p.R429*) ( ENST00000373960.4 )
DES p.Thr442Ile (p.T442I) ( ENST00000373960.4 ) - Associated Disease
- MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.563528744337044
- Year of publication
- NA
Drugs