Annotation Detail
Information
- Associated Genes
- COL7A1
- Associated Variants
-
COL7A1 p.Leu1169Ter (p.L1169*)
(
ENST00000328333.12,
ENST00000681320.1 )
COL7A1 p.Leu1169Ter (p.L1169*) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Met2798Lys (p.M2798K) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Arg2791Trp (p.R2791W) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Gly2749Ter (p.G2749*) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Gly2749Arg (p.G2749R) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Gly2653Arg (p.G2653R) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Arg2471Ter (p.R2471*) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Gly2287Arg (p.G2287R) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Arg2063Trp (p.R2063W) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Gly2031Ser (p.G2031S) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 c.4980+1G>C ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Gly1595Arg (p.G1595R) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Pro1277Leu (p.P1277L) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Pro595Leu (p.P595L) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Tyr311= (p.Y311=) ( ENST00000681320.1, ENST00000328333.12 )
COL7A1 p.Tyr311Ter (p.Y311*) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Arg236Ter (p.R236*) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Met2798Lys (p.M2798K) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Arg2791Trp (p.R2791W) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Gly2749Ter (p.G2749*) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Gly2749Arg (p.G2749R) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Gly2653Arg (p.G2653R) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Arg2471Ter (p.R2471*) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Gly2287Arg (p.G2287R) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Arg2063Trp (p.R2063W) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Gly2031Ser (p.G2031S) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 c.4980+1G>C ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Gly1595Arg (p.G1595R) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Pro1277Leu (p.P1277L) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Pro595Leu (p.P595L) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Tyr311= (p.Y311=) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Tyr311Ter (p.Y311*) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Arg236Ter (p.R236*) ( ENST00000328333.12, ENST00000681320.1 ) - Associated Disease
- Hallopeau-Siemens Disease
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.45818660542938
- Year of publication
- NA
Drugs