{{Rsnum
|rsid=2229475
|Gene=HSPG2
|Chromosome=1
|position=21855402
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.0225
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=HSPG2
}}{{Venter SNP
|rsid=2229475
|allele=T
|frequency=
|uid=1103675043291
|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=Val1967Ile
|aa_change_short=V1967I
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2229475
|overall_frequency_n=442
|overall_frequency_d=10754
|overall_frequency=0.041101
|n_genomes=2
|n_genomes_annotated=0
|n_haplomes=2
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=-4
|autoscore=2
|webscore=N
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}