Annotation Detail
Information
- Associated Genes
- PGK1
- Associated Variants
-
PGK1 p.Lys192del (p.K192del)
(
ENST00000373316.5,
ENST00000644362.1 )
PGK1 p.Lys192del (p.K192del) ( ENST00000373316.5, ENST00000644362.1 )
PGK1 p.Val266Met (p.V266M) ( ENST00000373316.5, ENST00000644362.1 )
PGK1 p.Val266Met (p.V266M) ( ENST00000373316.5, ENST00000644362.1 )
PGK1 p.Ile47Asn (p.I47N) ( ENST00000373316.5, ENST00000644362.1 )
PGK1 p.Leu88Pro (p.L88P) ( ENST00000373316.5, ENST00000644362.1 )
PGK1 p.Gly158Val (p.G158V) ( ENST00000373316.5, ENST00000644362.1 )
PGK1 p.Asp164Val (p.D164V) ( ENST00000373316.5, ENST00000644362.1 )
PGK1 p.Arg206Pro (p.R206P) ( ENST00000373316.5, ENST00000644362.1 )
PGK1 c.756+5G>A ( ENST00000373316.5, ENST00000644362.1 )
PGK1 p.Ile253Thr (p.I253T) ( ENST00000373316.5, ENST00000644362.1 )
PGK1 p.Asp268Asn (p.D268N) ( ENST00000373316.5, ENST00000644362.1 )
PGK1 p.Asp285Val (p.D285V) ( ENST00000373316.5, ENST00000644362.1 )
PGK1 p.Cys316Arg (p.C316R) ( ENST00000373316.5, ENST00000644362.1 )
PGK1 p.Ser320Asn (p.S320N) ( ENST00000373316.5, ENST00000644362.1 )
PGK1 p.Thr378Pro (p.T378P) ( ENST00000373316.5, ENST00000644362.1 )
PGK1 p.Ile47Asn (p.I47N) ( ENST00000373316.5, ENST00000644362.1 )
PGK1 p.Leu88Pro (p.L88P) ( ENST00000373316.5, ENST00000644362.1 )
PGK1 p.Gly158Val (p.G158V) ( ENST00000373316.5, ENST00000644362.1 )
PGK1 p.Asp164Val (p.D164V) ( ENST00000373316.5, ENST00000644362.1 )
PGK1 p.Arg206Pro (p.R206P) ( ENST00000373316.5, ENST00000644362.1 )
PGK1 c.756+5G>A ( ENST00000373316.5, ENST00000644362.1 )
PGK1 p.Ile253Thr (p.I253T) ( ENST00000373316.5, ENST00000644362.1 )
PGK1 p.Asp268Asn (p.D268N) ( ENST00000373316.5, ENST00000644362.1 )
PGK1 p.Asp285Val (p.D285V) ( ENST00000373316.5, ENST00000644362.1 )
PGK1 p.Cys316Arg (p.C316R) ( ENST00000373316.5, ENST00000644362.1 )
PGK1 p.Ser320Asn (p.S320N) ( ENST00000373316.5, ENST00000644362.1 )
PGK1 p.Thr378Pro (p.T378P) ( ENST00000373316.5, ENST00000644362.1 ) - Associated Disease
- phosphoglycerate kinase 1 deficiency
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.361357209360401
- Year of publication
- NA
Drugs