Annotation Detail
Information
- Associated Genes
- PRX
- Associated Variants
-
PRX p.Lys1025SerfsTer28 (p.K1025Sfs*28)
(
ENST00000291825.11,
ENST00000324001.8,
ENST00000673881.1,
ENST00000674005.2,
ENST00000674773.1 )
PRX p.Asp860ThrfsTer10 (p.D860Tfs*10) ( ENST00000291825.11, ENST00000324001.8, ENST00000673881.1, ENST00000674005.2, ENST00000674773.1 )
PRX p.Ala795ProfsTer18 (p.A795Pfs*18) ( ENST00000291825.11, ENST00000324001.8, ENST00000673881.1, ENST00000674005.2, ENST00000674773.1 )
PRX p.Leu178CysfsTer14 (p.L178Cfs*14) ( ENST00000291825.11, ENST00000324001.8, ENST00000673881.1, ENST00000674005.2, ENST00000674773.1 )
PRX p.Lys1025SerfsTer28 (p.K1025Sfs*28) ( ENST00000291825.11, ENST00000324001.8, ENST00000673881.1, ENST00000674005.2, ENST00000674773.1 )
PRX p.Asp860ThrfsTer10 (p.D860Tfs*10) ( ENST00000291825.11, ENST00000324001.8, ENST00000673881.1, ENST00000674005.2, ENST00000674773.1 )
PRX p.Ala795ProfsTer18 (p.A795Pfs*18) ( ENST00000291825.11, ENST00000324001.8, ENST00000673881.1, ENST00000674005.2, ENST00000674773.1 )
PRX p.Leu178CysfsTer14 (p.L178Cfs*14) ( ENST00000291825.11, ENST00000324001.8, ENST00000673881.1, ENST00000674005.2, ENST00000674773.1 )
PRX p.Arg1165Ter (p.R1165*) ( ENST00000291825.11, ENST00000324001.8, ENST00000673881.1, ENST00000674005.2, ENST00000674773.1 )
PRX p.Arg1048Ter (p.R1048*) ( ENST00000291825.11, ENST00000324001.8, ENST00000673881.1, ENST00000674005.2, ENST00000674773.1 )
PRX p.Cys810Ter (p.C810*) ( ENST00000291825.11, ENST00000324001.8, ENST00000673881.1, ENST00000674005.2, ENST00000674773.1 )
PRX p.Asp746Asn (p.D746N) ( ENST00000324001.8, ENST00000291825.11, ENST00000673881.1, ENST00000674005.2, ENST00000674773.1 )
PRX p.Arg291Ter (p.R291*) ( ENST00000291825.11, ENST00000324001.8, ENST00000673881.1, ENST00000674005.2, ENST00000674773.1 )
PRX p.Arg291= (p.R291=) ( ENST00000291825.11, ENST00000324001.8, ENST00000673881.1, ENST00000674005.2, ENST00000674773.1 )
PRX p.Arg1165Ter (p.R1165*) ( ENST00000291825.11, ENST00000324001.8, ENST00000673881.1, ENST00000674005.2, ENST00000674773.1 )
PRX p.Arg1048Ter (p.R1048*) ( ENST00000291825.11, ENST00000324001.8, ENST00000673881.1, ENST00000674005.2, ENST00000674773.1 )
PRX p.Cys810Ter (p.C810*) ( ENST00000291825.11, ENST00000324001.8, ENST00000673881.1, ENST00000674005.2, ENST00000674773.1 )
PRX p.Asp746Asn (p.D746N) ( ENST00000291825.11, ENST00000324001.8, ENST00000673881.1, ENST00000674005.2, ENST00000674773.1 )
PRX p.Arg291Ter (p.R291*) ( ENST00000291825.11, ENST00000324001.8, ENST00000673881.1, ENST00000674005.2, ENST00000674773.1 )
PRX p.Arg291= (p.R291=) ( ENST00000291825.11, ENST00000324001.8, ENST00000673881.1, ENST00000674005.2, ENST00000674773.1 ) - Associated Disease
- CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- NA
Drugs