GPC6 Chromosome 13
Glypican 6
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What This Gene Does
The glypicans comprise a family of glycosylphosphatidylinositol-anchored heparan sulfate proteoglycans, and they have been implicated in the control of cell growth and cell division. The glypican encoded by this gene is a putative cell surface coreceptor for growth factors, extracellular matrix proteins, proteases and anti-proteases. Mutations in this gene are associated with omodysplasia 1. [provided by RefSeq, Nov 2016]
Gene Info
Gene Group
Glypicans
Locus Type
gene with protein product
Location
13q31.3-q32.1
Ensembl
ENSG00000183098
Associated Conditions (2)
Inborn genetic diseases
Autosomal recessive omodysplasia
Key Variants
RS140177257
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS140343089
Conflicting classifications of pathogenicity
Autosomal recessive omodysplasia, Autosomal recessive omodysplasia
Health Risk
RS2501425559
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS547759856
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS754858999
Conflicting classifications of pathogenicity
Health Risk
RS767667871
Conflicting classifications of pathogenicity
Autosomal recessive omodysplasia, Autosomal recessive omodysplasia
Health Risk
RS769274919
Conflicting classifications of pathogenicity
Autosomal recessive omodysplasia, Autosomal recessive omodysplasia
Health Risk
RS776151903
Conflicting classifications of pathogenicity
Autosomal recessive omodysplasia, Autosomal recessive omodysplasia
Health Risk
RS794727797
Conflicting classifications of pathogenicity
Health Risk
RS121908440
Pathogenic
Autosomal recessive omodysplasia, Autosomal recessive omodysplasia
Health Risk
RS2138980021
Pathogenic
Health Risk
RS767379547
Pathogenic
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140177257 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS140343089 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive omodysplasia, Autosomal recessive omodysplasia |
| RS2501425559 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS547759856 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS754858999 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS767667871 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive omodysplasia, Autosomal recessive omodysplasia |
| RS769274919 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive omodysplasia, Autosomal recessive omodysplasia |
| RS776151903 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive omodysplasia, Autosomal recessive omodysplasia |
| RS794727797 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS121908440 | Health Risk | Pathogenic | Autosomal recessive omodysplasia, Autosomal recessive omodysplasia |
| RS2138980021 | Health Risk | Pathogenic | — |
| RS767379547 | Health Risk | Pathogenic | — |
| RS863223282 | Health Risk | Pathogenic | Autosomal recessive omodysplasia, Autosomal recessive omodysplasia |