{{Rsnum
|rsid=989994
|Gene=HSPG2
|Chromosome=1
|position=21880156
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.05372
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=HSPG2
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 100.0 | 0.0 | 0.0
| HCB | 100.0 | 0.0 | 0.0
| JPT | 100.0 | 0.0 | 0.0
| YRI | 58.2 | 34.2 | 7.5
| ASW | 64.9 | 33.3 | 1.8
| CHB | 100.0 | 0.0 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 67.6 | 26.9 | 5.6
| MEX | 96.4 | 3.6 | 0.0
| MKK | 92.3 | 7.7 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=989994
|allele=C
|frequency=1
|uid=1103675043345
|type=homozygous_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.
}}

{{ neighbor
| rsid = 1874792
| distance = 586
}}

{{GET Evidence
|gene=HSPG2
|aa_change=Asn765Ser
|aa_change_short=N765S
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs989994
|overall_frequency_n=10033
|overall_frequency_d=10758
|overall_frequency=0.932608
|n_genomes=53
|n_genomes_annotated=0
|n_haplomes=96
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=0
|autoscore=1
|webscore=N
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}