{{Rsnum
|rsid=2073748
|Gene=ARVCF
|Chromosome=22
|position=19981448
|Orientation=minus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.3255
|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 | 42.3 | 44.1 | 13.5
| HCB | 56.1 | 36.4 | 7.6
| JPT | 61.4 | 38.6 | 0.0
| YRI | 38.9 | 47.9 | 13.2
| ASW | 38.6 | 36.8 | 24.6
| CHB | 56.1 | 36.4 | 7.6
| CHD | 55.6 | 39.8 | 4.6
| GIH | 20.4 | 50.0 | 29.6
| LWK | 44.4 | 44.4 | 11.1
| MEX | 29.8 | 52.6 | 17.5
| MKK | 51.9 | 39.7 | 8.3
| TSI | 46.1 | 43.1 | 10.8
| HapMapRevision=28
}}Although the table here shows rs2073748(C;C) as being the variant present in 100% of the CEU sample, there are anecdotal reports from the 23andMe community [http://www.23andme.com/you/community/thread/694/] that it is not as rare among Europeans as the study indicates -- several users who responded to the query within a few days after it was posted (out of an unknown number who saw it) reported that they are Caucasians who have other variants.  

{{Venter SNP
|rsid=2073748
|allele=A
|frequency=1
|uid=1103691007856
|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 = 2240717
| distance = 135
}}

{{GET Evidence
|gene=ARVCF
|aa_change=Pro220Leu
|aa_change_short=P220L
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2073748
|overall_frequency_n=3412
|overall_frequency_d=9982
|overall_frequency=0.341815
|n_genomes=30
|n_genomes_annotated=0
|n_haplomes=39
|n_articles=0
|n_articles_annotated=0
|pph2_score=0.769
|nblosum100=7
|autoscore=0
|webscore=N
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Illumina Human 1M}}