{{Rsnum
|rsid=398122915
|Chromosome=3
|Orientation=plus
|geno1=(AA;AA)
|geno2=(AA;TC)
|geno3=(TC;TC)
|Gene=SOX2
|position=181712503
|Gene_s=SOX2,SOX2-OT
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=TAA
|CHROM=3
|CLNACC=RCV000033025.21
|CLNALLE=1
|CLNDBN=Microphthalmia syndromic 3
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1300:NBK1378:C1859773:206900:77298
|CLNHGVS=NC_000003.11:g.181430291_181430292delTCinsAA
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=184429.0018
|Disease=Microphthalmia syndromic 3
|FwdALT=AA
|FwdREF=TC
|GENEINFO=SOX2-OT:347689; SOX2:6657
|GENE_ID=347689; 6657
|GENE_NAME=SOX2-OT; SOX2
|REF=TTC
|RSPOS=181430290
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=MNV
|VP=0x050060000000000002110800
|WGT=0
|dbSNPBuildID=138
|rsid=398122915
}}