{{Rsnum
|rsid=387906749
|Chromosome=1
|position=119915557
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=NOTCH2
|Gene_s=NOTCH2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=1
|CLNACC=RCV000022963.1
|CLNALLE=1
|CLNDBN=Hajdu-Cheney syndrome
|CLNDSDB=MedGen:OMIM:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C0917715:102500:600330:ORPHA955:63122002
|CLNHGVS=NC_000001.11:g.119915557G>A
|CLNSIG=5
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNSRCID=NM_024408.3:c.7165C>T; 600275.0009
|Disease=Hajdu-Cheney syndrome
|FwdALT=T
|FwdREF=C
|REF=G
|RSPOS=119915557
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;NSN;REF;ASP;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000605000002110100
|WGT=1
|dbSNPBuildID=137
|rsid=387906749
|GENEINFO=NOTCH2:4853
|GENE_ID=4853
|GENE_NAME=NOTCH2
|CLNORIGIN=1
}}