{{Rsnum
|rsid=143739249
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Chromosome=2
|Orientation=plus
|Gene=STAMBP
|position=73830968
|Gene_s=STAMBP
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=2
|CLNACC=RCV000043574.3
|CLNALLE=1
|CLNDBN=Microcephaly-capillary malformation syndrome
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK174452:C3280296:614261:294016
|CLNHGVS=NC_000002.11:g.74058095C>T
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=606247.0003
|Disease=Microcephaly-capillary malformation syndrome
|FwdALT=T
|FwdREF=C
|GENEINFO=STAMBP:10617
|GENE_ID=10617
|GENE_NAME=STAMBP
|REF=C
|RSPOS=74058095
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=134
|rsid=143739249
}}