Annotation Detail
Information
- Associated Genes
- FECH
- Associated Variants
-
FECH p.Lys385ArgfsTer21 (p.K385Rfs*21)
(
ENST00000262093.11,
ENST00000382873.8,
ENST00000652755.1 )
FECH p.Tyr200LeufsTer16 (p.Y200Lfs*16) ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 )
FECH p.Lys385ArgfsTer21 (p.K385Rfs*21) ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 )
FECH p.Tyr200LeufsTer16 (p.Y200Lfs*16) ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 )
FECH p.Phe423Ser (p.F423S) ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 )
FECH p.Cys417Gly (p.C417G) ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 )
FECH p.Pro415Ser (p.P415S) ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 )
FECH p.Asn414Lys (p.N414K) ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 )
FECH c.1155+3A>G ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 )
FECH p.Val368Gly (p.V368G) ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 )
FECH c.1095+1G>A ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 )
FECH p.Met273Ile (p.M273I) ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 )
FECH p.Met273Ile (p.M273I) ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 )
FECH p.Ala191Thr (p.A191T) ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 )
FECH c.333-48T>C ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 )
FECH c.332+6A>C ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 )
FECH c.332+2T>G ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 )
FECH p.Asn69Asp (p.N69D) ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 )
FECH p.Gly55Cys (p.G55C) ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 )
FECH p.Gly55Ser (p.G55S) ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 )
FECH c.68-23C>T ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 )
FECH c.68-23C>A ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 )
FECH p.Phe423Ser (p.F423S) ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 )
FECH p.Cys417Gly (p.C417G) ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 )
FECH p.Pro415Ser (p.P415S) ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 )
FECH p.Asn414Lys (p.N414K) ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 )
FECH c.1155+3A>G ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 )
FECH p.Val368Gly (p.V368G) ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 )
FECH c.1095+1G>A ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 )
FECH p.Met273Ile (p.M273I) ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 )
FECH p.Met273Ile (p.M273I) ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 )
FECH p.Ala191Thr (p.A191T) ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 )
FECH c.333-48T>C ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 )
FECH c.332+6A>C ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 )
FECH c.332+2T>G ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 )
FECH p.Asn69Asp (p.N69D) ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 )
FECH p.Gly55Cys (p.G55C) ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 )
FECH p.Gly55Ser (p.G55S) ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 )
FECH c.68-23C>T ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 )
FECH c.68-23C>A ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 ) - Associated Disease
- erythropoietic protoporphyria
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.609405928021807
- Year of publication
- NA
Drugs