Annotation Detail
Information
- Associated Genes
- COL1A1
- Associated Variants
-
COL1A1 p.Gly896AlafsTer212 (p.G896Afs*212)
(
ENST00000225964.10 )
COL1A1 p.Pro817LeufsTer291 (p.P817Lfs*291) ( ENST00000225964.10 )
COL1A1 p.Gly809AlafsTer299 (p.G809Afs*299) ( ENST00000225964.10 )
COL1A1 p.Gly605AlafsTer161 (p.G605Afs*161) ( ENST00000225964.10 )
COL1A1 p.Thr553LeufsTer27 (p.T553Lfs*27) ( ENST00000225964.10 )
COL1A1 p.Gly194ValfsTer71 (p.G194Vfs*71) ( ENST00000225964.10 )
COL1A1 c.299-2_299-1delAG ( ENST00000225964.10 )
COL1A1 p.Gly896AlafsTer212 (p.G896Afs*212) ( ENST00000225964.10 )
COL1A1 p.Pro817LeufsTer291 (p.P817Lfs*291) ( ENST00000225964.10 )
COL1A1 p.Gly809AlafsTer299 (p.G809Afs*299) ( ENST00000225964.10 )
COL1A1 p.Gly605AlafsTer161 (p.G605Afs*161) ( ENST00000225964.10 )
COL1A1 p.Thr553LeufsTer27 (p.T553Lfs*27) ( ENST00000225964.10 )
COL1A1 p.Gly194ValfsTer71 (p.G194Vfs*71) ( ENST00000225964.10 )
COL1A1 c.299-2_299-1delAG ( ENST00000225964.10 )
COL1A1 p.Arg1026Ter (p.R1026*) ( ENST00000225964.10 )
COL1A1 p.Pro978Ser (p.P978S) ( ENST00000225964.10 )
COL1A1 p.Gln966Arg (p.Q966R) ( ENST00000225964.10 )
COL1A1 p.Arg865His (p.R865H) ( ENST00000225964.10 )
COL1A1 c.2398-1G>T ( ENST00000225964.10 )
COL1A1 c.2398-1G>C ( ENST00000225964.10 )
COL1A1 p.Gln721Ter (p.Q721*) ( ENST00000225964.10 )
COL1A1 p.Gln688Ter (p.Q688*) ( ENST00000225964.10 )
COL1A1 p.Arg528His (p.R528H) ( ENST00000225964.10 )
COL1A1 p.Gly515Ala (p.G515A) ( ENST00000225964.10 )
COL1A1 p.Pro412Arg (p.P412R) ( ENST00000225964.10 )
COL1A1 c.1200+1G>A ( ENST00000225964.10 )
COL1A1 p.Ala348Thr (p.A348T) ( ENST00000225964.10 )
COL1A1 p.Gly341Cys (p.G341C) ( ENST00000225964.10 )
COL1A1 p.Gly332Arg (p.G332R) ( ENST00000225964.10 )
COL1A1 p.Gly269Ser (p.G269S) ( ENST00000225964.10 )
COL1A1 p.Gly263Arg (p.G263R) ( ENST00000225964.10 )
COL1A1 c.751-2A>G ( ENST00000225964.10 )
COL1A1 p.Gly173Ter (p.G173*) ( ENST00000225964.10 )
COL1A1 p.Gly173Arg (p.G173R) ( ENST00000225964.10 )
COL1A1 c.370-2A>G ( ENST00000225964.10 )
COL1A1 p.Arg1026Ter (p.R1026*) ( ENST00000225964.10 )
COL1A1 p.Pro978Ser (p.P978S) ( ENST00000225964.10 )
COL1A1 p.Gln966Arg (p.Q966R) ( ENST00000225964.10 )
COL1A1 p.Arg865His (p.R865H) ( ENST00000225964.10 )
COL1A1 c.2398-1G>T ( ENST00000225964.10 )
COL1A1 c.2398-1G>C ( ENST00000225964.10 )
COL1A1 p.Gln721Ter (p.Q721*) ( ENST00000225964.10 )
COL1A1 p.Gln688Ter (p.Q688*) ( ENST00000225964.10 )
COL1A1 p.Arg528His (p.R528H) ( ENST00000225964.10 )
COL1A1 p.Gly515Ala (p.G515A) ( ENST00000225964.10 )
COL1A1 p.Pro412Arg (p.P412R) ( ENST00000225964.10 )
COL1A1 c.1200+1G>A ( ENST00000225964.10 )
COL1A1 p.Ala348Thr (p.A348T) ( ENST00000225964.10 )
COL1A1 p.Gly341Cys (p.G341C) ( ENST00000225964.10 )
COL1A1 p.Gly332Arg (p.G332R) ( ENST00000225964.10 )
COL1A1 p.Gly269Ser (p.G269S) ( ENST00000225964.10 )
COL1A1 p.Gly263Arg (p.G263R) ( ENST00000225964.10 )
COL1A1 c.751-2A>G ( ENST00000225964.10 )
COL1A1 p.Gly173Ter (p.G173*) ( ENST00000225964.10 )
COL1A1 p.Gly173Arg (p.G173R) ( ENST00000225964.10 )
COL1A1 c.370-2A>G ( ENST00000225964.10 ) - Associated Disease
- osteogenesis imperfecta
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.315633557481676
- Year of publication
- NA
Drugs