{{Rsnum
|rsid=4689278
|Gene=EVC2
|Chromosome=4
|position=5689175
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.2374
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=EVC2
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 3.5 | 36.3 | 60.2
| HCB | 16.1 | 51.8 | 32.1
| JPT | 8.8 | 36.3 | 54.9
| YRI | 2.7 | 20.4 | 76.9
| ASW | 0.0 | 42.1 | 57.9
| CHB | 16.1 | 51.8 | 32.1
| CHD | 15.6 | 50.5 | 33.9
| GIH | 4.0 | 38.6 | 57.4
| LWK | 2.7 | 23.6 | 73.6
| MEX | 8.6 | 36.2 | 55.2
| MKK | 1.3 | 19.2 | 79.5
| TSI | 3.9 | 37.3 | 58.8
| HapMapRevision=28
}}{{Venter SNP
|rsid=4689278
|allele=C
|frequency=0.242
|uid=1103654323786
|type=heterozygous_SNP
|hugo=EVC2
|ensembl gene=ENSG00000173040
|ensembl transcript=ENST00000344408
|sift=TOLERATED
|disease=Defects in EVC2 are a cause of Ellis-van Creveld syndrome (MIM:225500). Ellis-van Creveld syndrome is an autosomal recessive skeletal dysplasia characterized by short-limb dwarfism, short ribs, postaxial polydactyly, and dysplastic nails and teeth. In addition to the chondroectodermal phenotype, congenital heart defects, most commonly an atrio-ventricular septal defect, are observed in 60% of affected individuals.
}}

{{PMID Auto
|PMID=18947413
|Title=Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene.
|OA=1
}}

{{GET Evidence
|gene=EVC2
|aa_change=Ser230Gly
|aa_change_short=S230G
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs4689278
|overall_frequency_n=2292
|overall_frequency_d=10758
|overall_frequency=0.213051
|n_genomes=17
|n_genomes_annotated=0
|n_haplomes=23
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.121
|genetests_testable=Y
|nblosum100=2
|autoscore=1
|webscore=N
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | Affy500k}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}