{{Rsnum
|rsid=397515338
|Chromosome=10
|Orientation=minus
|geno1=(-;-)
|geno2=(-;AA)
|geno3=(AA;AA)
|Gene=HPSE2
|position=98490051
|Gene_s=HPSE2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=C
|CHROM=10
|CLNACC=RCV000000104.2
|CLNALLE=1
|CLNDBN=Ochoa syndrome
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK154138:C0403555:236730:2704:236533008
|CLNHGVS=NC_000010.10:g.100249808_100249809delTT
|CLNSIG=5
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNSRCID=NBK154138; 613469.0002
|Disease=Ochoa syndrome
|FwdREF=AA
|GENEINFO=HPSE2:60495
|GENE_ID=60495
|GENE_NAME=HPSE2
|REF=CTT
|RSPOS=100249807
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD;OM
|VC=DIV
|VP=0x050060000000000002110200
|WGT=0
|dbSNPBuildID=136
|rsid=397515338
}}