Annotation Detail
Information
- Associated Genes
- OCA2
- Associated Variants
-
OCA2 p.Ala654LeufsTer9 (p.A654Lfs*9)
(
ENST00000353809.9,
ENST00000354638.8 )
OCA2 p.Ser289ArgfsTer7 (p.S289Rfs*7) ( ENST00000353809.9, ENST00000354638.8 )
OCA2 p.Ala654LeufsTer9 (p.A654Lfs*9) ( ENST00000353809.9, ENST00000354638.8 )
OCA2 p.Ser289ArgfsTer7 (p.S289Rfs*7) ( ENST00000353809.9, ENST00000354638.8 )
OCA2 p.Asn273_Trp274delinsLysVal (p.N273_W274delinsKV) ( ENST00000354638.8, ENST00000353809.9 )
OCA2 p.Asn273_Trp274delinsLysVal (p.N273_W274delinsKV) ( ENST00000353809.9, ENST00000354638.8 )
OCA2 p.Gly782Arg (p.G782R) ( ENST00000354638.8, ENST00000353809.9 )
OCA2 p.Pro743Leu (p.P743L) ( ENST00000353809.9, ENST00000354638.8 )
OCA2 p.Ser736Leu (p.S736L) ( ENST00000354638.8, ENST00000353809.9 )
OCA2 p.Trp679Cys (p.W679C) ( ENST00000354638.8, ENST00000353809.9 )
OCA2 p.Glu671Val (p.E671V) ( ENST00000354638.8, ENST00000353809.9 )
OCA2 c.1842+1G>T ( ENST00000353809.9, ENST00000354638.8 )
OCA2 c.1503+5G>A ( ENST00000354638.8, ENST00000353809.9 )
OCA2 p.Asn489Asp (p.N489D) ( ENST00000353809.9, ENST00000354638.8 )
OCA2 p.Ala481Thr (p.A481T) ( ENST00000354638.8, ENST00000353809.9 )
OCA2 p.Asn476Ser (p.N476S) ( ENST00000354638.8, ENST00000353809.9 )
OCA2 p.Val443Ile (p.V443I) ( ENST00000353809.9, ENST00000354638.8 )
OCA2 p.Thr404Met (p.T404M) ( ENST00000354638.8, ENST00000353809.9 )
OCA2 p.Met394Ile (p.M394I) ( ENST00000354638.8, ENST00000353809.9 )
OCA2 p.Phe385Ile (p.F385I) ( ENST00000354638.8, ENST00000353809.9 )
OCA2 p.Ala334Val (p.A334V) ( ENST00000353809.9, ENST00000354638.8 )
OCA2 p.Gly27Arg (p.G27R) ( ENST00000354638.8, ENST00000353809.9 )
OCA2 p.Gly27Arg (p.G27R) ( ENST00000354638.8, ENST00000353809.9 )
OCA2 p.Gly782Arg (p.G782R) ( ENST00000353809.9, ENST00000354638.8 )
OCA2 p.Pro743Leu (p.P743L) ( ENST00000353809.9, ENST00000354638.8 )
OCA2 p.Ser736Leu (p.S736L) ( ENST00000353809.9, ENST00000354638.8 )
OCA2 p.Trp679Cys (p.W679C) ( ENST00000353809.9, ENST00000354638.8 )
OCA2 p.Glu671Val (p.E671V) ( ENST00000353809.9, ENST00000354638.8 )
OCA2 c.1842+1G>T ( ENST00000353809.9, ENST00000354638.8 )
OCA2 c.1503+5G>A ( ENST00000353809.9, ENST00000354638.8 )
OCA2 p.Asn489Asp (p.N489D) ( ENST00000353809.9, ENST00000354638.8 )
OCA2 p.Ala481Thr (p.A481T) ( ENST00000353809.9, ENST00000354638.8 )
OCA2 p.Asn476Ser (p.N476S) ( ENST00000353809.9, ENST00000354638.8 )
OCA2 p.Val443Ile (p.V443I) ( ENST00000353809.9, ENST00000354638.8 )
OCA2 p.Thr404Met (p.T404M) ( ENST00000354638.8, ENST00000353809.9 )
OCA2 p.Met394Ile (p.M394I) ( ENST00000353809.9, ENST00000354638.8 )
OCA2 p.Phe385Ile (p.F385I) ( ENST00000353809.9, ENST00000354638.8 )
OCA2 p.Ala334Val (p.A334V) ( ENST00000353809.9, ENST00000354638.8 )
OCA2 p.Gly27Arg (p.G27R) ( ENST00000353809.9, ENST00000354638.8 )
OCA2 p.Gly27Arg (p.G27R) ( ENST00000353809.9, ENST00000354638.8 ) - Associated Disease
- Oculocutaneous albinism type 2
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.563257302464964
- Year of publication
- NA
Drugs