The EVC gene homepage

General information
Gene symbol EVC
Gene name Ellis van Creveld syndrome
Chromosome 4
Chromosomal band p16
Imprinted Unknown
Genomic reference NG_008843.1
Transcript reference NM_153717.2
Exon/intron information NM_153717.2 exon/intron table
Associated with diseases EVC, ID, WAD
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 248
Unique public DNA variants reported 158
Individuals with public variants 241
Hidden variants 15
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated January 11, 2023
Version EVC:230111

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_153717.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 3497
Entrez Gene 2121
PubMed articles EVC
OMIM - Gene 604831
OMIM - Diseases EVC (Ellis-van Creveld syndrome (EVC))
WAD (dysostosis, acrodental, Weyers (WAD))
GeneCards EVC
GeneTests EVC
Orphanet EVC

Active transcripts




NCBI ID     

NCBI Protein ID     

00007280 4 Ellis van Creveld syndrome NM_153717.2 NP_714928.1 248

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