Annotation Detail
Information
- Associated Genes
- TFR2
- Associated Variants
-
TFR2 p.Ala621_Gln624del (p.A621_Q624del)
(
ENST00000223051.8,
ENST00000431692.5,
ENST00000462107.1 )
TFR2 p.Ser556AlafsTer6 (p.S556Afs*6) ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 )
TFR2 p.Asn412del (p.N412del) ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 )
TFR2 p.Ala621_Gln624del (p.A621_Q624del) ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 )
TFR2 p.Ser556AlafsTer6 (p.S556Afs*6) ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 )
TFR2 p.Asn412del (p.N412del) ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 )
TFR2 p.Gly792Arg (p.G792R) ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 )
TFR2 c.2137-1G>A ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 )
TFR2 p.Gln690Pro (p.Q690P) ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 )
TFR2 p.Leu490Arg (p.L490R) ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 )
TFR2 p.Arg468His (p.R468H) ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 )
TFR2 p.Arg455Gln (p.R455Q) ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 )
TFR2 p.Ala444Thr (p.A444T) ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 )
TFR2 p.Arg396Ter (p.R396*) ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 )
TFR2 p.Gln317Ter (p.Q317*) ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 )
TFR2 p.Tyr250Ter (p.Y250*) ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 )
TFR2 p.Met172Lys (p.M172K) ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 )
TFR2 p.Arg105Ter (p.R105*) ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 )
TFR2 p.Val22Ile (p.V22I) ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 )
TFR2 p.Gly792Arg (p.G792R) ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 )
TFR2 c.2137-1G>A ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 )
TFR2 p.Gln690Pro (p.Q690P) ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 )
TFR2 p.Leu490Arg (p.L490R) ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 )
TFR2 p.Arg468His (p.R468H) ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 )
TFR2 p.Arg455Gln (p.R455Q) ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 )
TFR2 p.Ala444Thr (p.A444T) ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 )
TFR2 p.Arg396Ter (p.R396*) ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 )
TFR2 p.Gln317Ter (p.Q317*) ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 )
TFR2 p.Tyr250Ter (p.Y250*) ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 )
TFR2 p.Met172Lys (p.M172K) ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 )
TFR2 p.Arg105Ter (p.R105*) ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 )
TFR2 p.Val22Ile (p.V22I) ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 )
TFR2 p.Lys31GlufsTer30 (p.K31Efs*30)
TFR2 p.Lys31GlufsTer30 (p.K31Efs*30) - Associated Disease
- HEMOCHROMATOSIS, TYPE 3
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.562442976848723
- Year of publication
- NA
Drugs