{{Rsnum
|rsid=2240717
|Gene=ARVCF
|Chromosome=22
|position=19981583
|Orientation=minus
|ReferenceAllele=T
|MissenseAllele=C
|GMAF=0.3751
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=ARVCF
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 10.8 | 41.5 | 47.7
| HCB | 6.7 | 35.6 | 57.8
| JPT | 0.0 | 38.6 | 61.4
| YRI | 41.3 | 49.2 | 9.5
| ASW | 0.0 | 0.0 | 0.0
| CHB | 6.7 | 35.6 | 57.8
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=2240717
|allele=G
|frequency=0.325
|uid=1103691007858
|type=homozygous_SNP
|hugo=ARVCF
|ensembl gene=ENSG00000099889
|ensembl transcript=ENST00000263207
|sift=TOLERATED
|disease=Gene deleted in velo-cardio-facial syndrome (VCFS); it is hemizygous in all VCFS patients with interstitial deletions. This hemizygosity may play a role in the etiology of some of the phenotypes associated with VCFS characterized by a wide spectrum phenotypes, including conotruncal heart defects, cleft palate and facial dysmorphology.
}}

{{ neighbor
| rsid = 2073748
| distance = 135
}}

{{GET Evidence
|gene=ARVCF
|aa_change=Val175Ala
|aa_change_short=V175A
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2240717
|overall_frequency_n=4218
|overall_frequency_d=10384
|overall_frequency=0.406202
|n_genomes=25
|n_genomes_annotated=0
|n_haplomes=35
|n_articles=0
|n_articles_annotated=0
|nblosum100=2
|autoscore=0
|webscore=N
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}