{{Rsnum
|rsid=121908539
|Chromosome=14
|Orientation=plus
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene=GPHN
|position=66508555
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=GPHN
}}{{omim
|id=603930
|rsnum=121908539
|variant=0002
}}{{ClinVar
|rsid=121908539
|Reversed=0
|FwdREF=A
|FwdALT=T
|REF=A
|ALT=T
|RSPOS=66975273
|CHROM=14
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050160000000000002110100
|GENEINFO=GPHN:10243
|GENE_NAME=GPHN
|GENE_ID=10243
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000014.8:g.66975273A>T
|CLNORIGIN=1
|Tags=PM;SLO;OTHERKG;LSD;OM
|CLNACC=RCV000006337.1; RCV000031964.2
|CLNDBN=Variant of unknown significance; Hyperekplexia hereditary
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1260:C1835614:149400:3197
|CLNSIG=5
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNSRCID=NBK1260; 603930.0002
|Disease=Variant of unknown significance; Hyperekplexia hereditary
}}