GRM6 Chromosome 5

Glutamate metabotropic receptor 6
75 variants 75 Health Risk

Upload your DNA to see your personal genotypes for variants in GRM6.

What This Gene Does
L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Mutations in this gene result in congenital stationary night blindness type 1B. [provided by RefSeq, May 2018]
Gene Info
Gene Group
Glutamate metabotropic receptors
Locus Type
gene with protein product
Location
5q35.3
Ensembl
ENSG00000113262
Associated Conditions (8)
Inborn genetic diseases
Congenital stationary night blindness 1B
Ovarian serous cystadenocarcinoma
Retinal dystrophy
Congenital stationary night blindness
GRM6-related disorder
Hepatocellular carcinoma
Leber congenital amaurosis
Key Variants
All Variants (75)
RSID Category Clinical Significance Conditions
RS1034464770 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1189206125 Health Risk Conflicting classifications of pathogenicity
RS121434304 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1B, Congenital stationary night blindness 1B
RS138551288 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1B, Congenital stationary night blindness 1B
RS138887489 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143491269 Health Risk Conflicting classifications of pathogenicity
RS148524969 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149519053 Health Risk Conflicting classifications of pathogenicity Ovarian serous cystadenocarcinoma, Ovarian serous cystadenocarcinoma
RS150290493 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150968591 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200210006 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Inborn genetic diseases, Retinal dystrophy
RS201396068 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1B, Retinal dystrophy, Congenital stationary night blindness 1B
RS201576815 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201777089 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369642678 Health Risk Conflicting classifications of pathogenicity
RS544297690 Health Risk Conflicting classifications of pathogenicity
RS566355447 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS572890701 Health Risk Conflicting classifications of pathogenicity
RS61731186 Health Risk Conflicting classifications of pathogenicity
RS61733863 Health Risk Conflicting classifications of pathogenicity
RS62638619 Health Risk Conflicting classifications of pathogenicity
RS754893934 Health Risk Conflicting classifications of pathogenicity
RS756171835 Health Risk Conflicting classifications of pathogenicity
RS757057677 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1B, Congenital stationary night blindness 1B
RS770025079 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness, Congenital stationary night blindness 1B, Congenital stationary night blindness
RS794727907 Health Risk Conflicting classifications of pathogenicity
RS79602188 Health Risk Conflicting classifications of pathogenicity GRM6-related disorder, Hepatocellular carcinoma, GRM6-related disorder
RS1245839329 Health Risk Likely pathogenic
RS1304183009 Health Risk Likely pathogenic Congenital stationary night blindness 1B, Congenital stationary night blindness 1B
RS138021998 Health Risk Likely pathogenic
RS1426740204 Health Risk Likely pathogenic Congenital stationary night blindness 1B, Congenital stationary night blindness 1B
RS1760621228 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS62638197 Health Risk Likely pathogenic Congenital stationary night blindness 1B, Congenital stationary night blindness, Congenital stationary night blindness 1B
RS62638202 Health Risk Likely pathogenic Congenital stationary night blindness 1B, Congenital stationary night blindness 1B
RS758498215 Health Risk Likely pathogenic
RS777168556 Health Risk Likely pathogenic Congenital stationary night blindness, Congenital stationary night blindness
RS1189004291 Health Risk Pathogenic
RS1351871440 Health Risk Pathogenic
RS1353889281 Health Risk Pathogenic
RS1433868678 Health Risk Pathogenic
RS146746317 Health Risk Pathogenic
RS1760440151 Health Risk Pathogenic
RS1760555124 Health Risk Pathogenic
RS1760572523 Health Risk Pathogenic
RS1760632389 Health Risk Pathogenic
RS1760743459 Health Risk Pathogenic
RS199663175 Health Risk Pathogenic
RS2113326773 Health Risk Pathogenic
RS2113326934 Health Risk Pathogenic
RS2113336038 Health Risk Pathogenic
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