{{Rsnum
|rsid=121908384
|Chromosome=1
|Orientation=plus
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene=TBCE
|position=235437471
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=TBCE
}}{{omim
|id=604934
|rsnum=121908384
|variant=0003
}}{{ClinVar
|rsid=121908384
|Reversed=0
|FwdREF=T
|FwdALT=A
|REF=T
|ALT=A
|RSPOS=235437471
|CHROM=1
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050060000605000002110100
|GENEINFO=TBCE:6905
|GENE_NAME=TBCE
|GENE_ID=6905
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.235437471T>A
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_001079515.2:c.1113T>A; 604934.0003
|CLNSIG=5
|CLNCUI=C1855840
|CLNDBN=Hypoparathyroidism retardation dysmorphism syndrome
|Disease=Hypoparathyroidism retardation dysmorphism syndrome
|CLNACC=RCV000005611.1
|Tags=PM;NSN;REF;ASP;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1855840:241410:ORPHA2323
}}