ADGRG6 Chromosome 6
Adhesion G protein-coupled receptor G6
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What This Gene Does
This gene, which is upregulated in human umbilical vein endothelial cells, encodes a G protein-coupled receptor. Variations in this gene can affect a person's stature. Multiple transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Mar 2009]
Gene Info
Gene Group
Adhesion G protein-coupled receptors, subfamily G
Locus Type
gene with protein product
Location
6q24.2
Ensembl
ENSG00000112414
Associated Conditions (4)
ADGRG6-related disorder
Inborn genetic diseases
Lethal congenital contracture syndrome 9
Arthrogryposis multiplex congenita
Key Variants
RS202040079
Conflicting classifications of pathogenicity
ADGRG6-related disorder, Inborn genetic diseases, ADGRG6-related disorder
Health Risk
RS372735218
Conflicting classifications of pathogenicity
Health Risk
RS2483177661
Likely pathogenic
Lethal congenital contracture syndrome 9, Lethal congenital contracture syndrome 9
Health Risk
RS926862737
Likely pathogenic
Lethal congenital contracture syndrome 9, Lethal congenital contracture syndrome 9
Health Risk
RS1349317802
Pathogenic
Health Risk
RS2115031969
Pathogenic
Lethal congenital contracture syndrome 9, Lethal congenital contracture syndrome 9
Health Risk
RS749355583
Pathogenic
Arthrogryposis multiplex congenita, Lethal congenital contracture syndrome 9, Arthrogryposis multiplex congenita
Health Risk
RS793888524
Pathogenic
Arthrogryposis multiplex congenita, Lethal congenital contracture syndrome 9, Arthrogryposis multiplex congenita
Health Risk
RS793888525
Pathogenic/Likely pathogenic
Arthrogryposis multiplex congenita, Lethal congenital contracture syndrome 9, Arthrogryposis multiplex congenita
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS202040079 | Health Risk | Conflicting classifications of pathogenicity | ADGRG6-related disorder, Inborn genetic diseases, ADGRG6-related disorder |
| RS372735218 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2483177661 | Health Risk | Likely pathogenic | Lethal congenital contracture syndrome 9, Lethal congenital contracture syndrome 9 |
| RS926862737 | Health Risk | Likely pathogenic | Lethal congenital contracture syndrome 9, Lethal congenital contracture syndrome 9 |
| RS1349317802 | Health Risk | Pathogenic | — |
| RS2115031969 | Health Risk | Pathogenic | Lethal congenital contracture syndrome 9, Lethal congenital contracture syndrome 9 |
| RS749355583 | Health Risk | Pathogenic | Arthrogryposis multiplex congenita, Lethal congenital contracture syndrome 9, Arthrogryposis multiplex congenita |
| RS793888524 | Health Risk | Pathogenic | Arthrogryposis multiplex congenita, Lethal congenital contracture syndrome 9, Arthrogryposis multiplex congenita |
| RS793888525 | Health Risk | Pathogenic/Likely pathogenic | Arthrogryposis multiplex congenita, Lethal congenital contracture syndrome 9, Arthrogryposis multiplex congenita |