{{Rsnum
|rsid=1110627
|Gene=DLL3
|Chromosome=19
|position=39504071
|Orientation=minus
|ReferenceAllele=T
|MissenseAllele=C
|GMAF=0.4063
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=DLL3
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 23.9 | 47.8 | 28.3
| HCB | 22.6 | 42.3 | 35.0
| JPT | 22.1 | 47.8 | 30.1
| YRI | 5.4 | 27.2 | 67.3
| ASW | 12.3 | 33.3 | 54.4
| CHB | 22.6 | 42.3 | 35.0
| CHD | 15.6 | 51.4 | 33.0
| GIH | 14.9 | 45.5 | 39.6
| LWK | 6.4 | 36.4 | 57.3
| MEX | 12.1 | 60.3 | 27.6
| MKK | 5.1 | 35.3 | 59.6
| TSI | 19.6 | 40.2 | 40.2
| HapMapRevision=28
}}

{{Venter SNP
|rsid=1110627
|allele=C
|frequency=0.45
|uid=1103691143953
|type=heterozygous_SNP
|hugo=DLL3
|ensembl gene=ENSG00000090932
|ensembl transcript=ENST00000205143
|sift=TOLERATED
|disease=Defects in DLL3 are the cause of about 30% of cases of autosomal recessive spondylocostal dysostosis (MIM:277300). Spondylocostal dysostosis is a term historically applied to a wide variety of radiological features that include multiple abnormal vertebral segmetation defects, but more recently has been refined to refer only to cases with contiguous involvement of more than 10 segments, with mal-alignment of at least some ribs. Mutations in four genes of the Notch signaling pathway (Dll3, MESP2, LFNG and HES7) have been shown to cause around half of all cases.
}}

{{ClinVar
|rsid=1110627
|Reversed=1
|FwdREF=A
|FwdALT=G
|REF=T
|ALT=C
|RSPOS=39994711
|CHROM=19
|GMAF=0.4057
|dbSNPBuildID=86
|SSR=0
|SAO=0
|VP=0x05036800000017051f100101
|GENEINFO=DLL3:10683
|GENE_NAME=DLL3
|GENE_ID=10683
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000019.9:g.39994711T>C
|CLNSIG=2
|Tags=RV;PM;PMC;S3D;SLO;VLD;G5A;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD
|CAF=0.4063; 0.5937
|CLNACC=RCV000034281.3
|CLNDBN=Jarcho-Levin syndrome
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK45316:NBK8828:C0265343:277300:2311:61367005
|CLNSRC=GeneReviews
|CLNSRCID=NBK8828
|COMMON=1
|Disease=Jarcho-Levin syndrome
}}

{{PMID Auto
|PMID=18485326
|Title=Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome.
|OA=1
}}

{{GET Evidence
|gene=DLL3
|aa_change=Leu218Pro
|aa_change_short=L218P
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1110627
|overall_frequency_n=6378
|overall_frequency_d=10758
|overall_frequency=0.592861
|n_genomes=44
|n_genomes_annotated=0
|n_haplomes=65
|n_articles=1
|n_articles_annotated=1
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|qualityscore_case_control=!
|qualityscore_severity=!
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=7
|autoscore=3
|n_web_uneval=1
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Illumina Human 1M}}