{{Rsnum
|rsid=2522943
|Gene=CLIP2
|Chromosome=7
|position=74400419
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=G
|GMAF=0.009183
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 92.3 | 7.7 | 0.0
| HCB | 100.0 | 0.0 | 0.0
| JPT | 100.0 | 0.0 | 0.0
| YRI | 100.0 | 0.0 | 0.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 100.0 | 0.0 | 0.0
| 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=2522943
|allele=C
|frequency=0.967
|uid=1103652613976
|type=homozygous_SNP
|hugo=CYLN2
|ensembl gene=ENSG00000106665
|ensembl transcript=ENST00000223398
|sift=TOLERATED
|disease=Haploinsufficiency of CYLN2 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in Williams-Beuren syndrome (WBS) (MIM:194050). WBS is a rare developmental disorder. It is a contiguous gene deletion syndrome involving genes from chromosome band 7q11.23.
}}{{GET Evidence
|gene=CLIP2
|aa_change=Arg977Pro
|aa_change_short=R977P
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2522943
|overall_frequency_n=10565
|overall_frequency_d=10758
|overall_frequency=0.98206
|n_genomes=54
|n_genomes_annotated=0
|n_haplomes=107
|n_articles=0
|n_articles_annotated=0
|nblosum100=5
|autoscore=0
|webscore=N
}}