{{Rsnum
|rsid=3736360
|Gene=HSPG2
|Chromosome=1
|position=21823627
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.157
|Gene_s=HSPG2,LDLRAD2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 5.4 | 30.4 | 64.3
| HCB | 2.9 | 24.8 | 72.3
| JPT | 2.7 | 35.1 | 62.2
| YRI | 0.0 | 15.0 | 85.0
| ASW | 1.8 | 22.8 | 75.4
| CHB | 2.9 | 24.8 | 72.3
| CHD | 1.8 | 32.1 | 66.1
| GIH | 14.0 | 29.0 | 57.0
| LWK | 0.0 | 19.1 | 80.9
| MEX | 3.5 | 31.6 | 64.9
| MKK | 1.9 | 14.2 | 83.9
| TSI | 9.8 | 25.5 | 64.7
| HapMapRevision=28
}}{{Venter SNP
|rsid=3736360
|allele=T
|frequency=0.22
|uid=1103675043217
|type=heterozygous_SNP
|hugo=HSPG2
|ensembl gene=ENSG00000142798
|ensembl transcript=ENST00000374695
|sift=TOLERATED
|disease=Defects in HSPG2 are the cause of dyssegmental dysplasia Silverman-Handmaker type (DDSH) (MIM:224410). The dyssegmental dysplasias are rare, autosomal recessive skeletal dysplasias with anisospondyly and micromelia. There are two recognized types: the severe, lethal DDSH and the milder Rolland-Desbuquois form. Individuals with DDSH also have a flat face, micrognathia, cleft palate and reduced joint mobility, and frequently have an encephalocoele. The endochondral growth plate is short, the calcospherites (which are spherical calcium-phosphorus crystals produced by hypertrophic chondrocytes) are unfused, and there is mucoid degeneration of the resting cartilage.
}}

{{GET Evidence
|gene=HSPG2
|aa_change=Ser4331Asn
|aa_change_short=S4331N
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs3736360
|overall_frequency_n=1582
|overall_frequency_d=10758
|overall_frequency=0.147053
|n_genomes=17
|n_genomes_annotated=0
|n_haplomes=17
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=0
|autoscore=1
|webscore=N
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}