Details for Gene EVC

GENE NAME EVC
CHROMOSOME 4
ENSEMBL ID None
ENTREZ ID ENSG00000072840
UNIPROT ACCESSION NUMBER None
GO MOLECULAR FUNCTION
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa04340; R-HSA-162582; R-HSA-5358351; R-HSA-5632684; R-HSA-5635838
4 combinations linked to EVC OLI603; OLI352; OLI1245; OLI597
6 variants linked to EVC EVC:c.1316-20G>T, ; EVC:c.1564-6C>T, ; EVC:c.1653G>A, p.Pro551=; EVC:c.1892C>T, p.Thr631Met; EVC:c.2240C>T, p.Ala747Val; EVC:c.1694delC, p.Ala565ValfsTer23
3 diseases linked to EVC Disorder of sex development; Hypodontia; 46,XY disorder of sex development

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