{{Rsnum
|rsid=104894047
|Gene=SHH
|Chromosome=7
|position=155803420
|Orientation=minus
|GMAF=0.007805
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=SHH
}}{{omim
|id=600725
|rsnum=104894047
|variant=0011
}}{{ClinVar
|rsid=104894047
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=155596114
|CHROM=7
|GMAF=0.0078
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050060000000040016110100
|GENEINFO=SHH:6469
|GENE_NAME=SHH
|GENE_ID=6469
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000007.13:g.155596114C>T
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NBK1530; 600725.0011
|CLNSIG=5
|CLNCUI=C1840529; C0266484
|CLNDBN=Holoprosencephaly 3; Schizencephaly
|Disease=Holoprosencephaly 3; Schizencephaly
|CLNACC=RCV000009437.2; RCV000023032.1
|Tags=RV;PM;VLD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9922; 0.007805
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet; MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1530:C1840529:142945:2162; C0266484:269160:799:253159001
|COMMON=1
}}{{GET Evidence
|gene=SHH
|aa_change=Gly290Val
|aa_change_short=G290V
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs104894047
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=8
|autoscore=3
|webscore=N
}}