GPHN Chromosome 14

Gephyrin
46 variants 46 Health Risk

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

What This Gene Does
This gene encodes a neuronal assembly protein that anchors inhibitory neurotransmitter receptors to the postsynaptic cytoskeleton via high affinity binding to a receptor subunit domain and tubulin dimers. In nonneuronal tissues, the encoded protein is also required for molybdenum cofactor biosynthesis. Mutations in this gene may be associated with the neurological condition hyperplexia and also lead to molybdenum cofactor deficiency. Numerous alternatively spliced transcript variants encoding different isoforms have been described; however, the full-length nature of all transcript variants is not currently known. [provided by RefSeq, Jul 2008]
Associated Conditions (8)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Hyperekplexia 1
Inborn genetic diseases
Seizure
Hepatocellular carcinoma
Thyroid cancer
nonmedullary
1
Key Variants
RS117256383
Conflicting classifications of pathogenicity
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Hyperekplexia 1, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Health Risk
RS140021399
Conflicting classifications of pathogenicity
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Inborn genetic diseases, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Health Risk
RS144247888
Conflicting classifications of pathogenicity
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Inborn genetic diseases, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Health Risk
RS1567108397
Conflicting classifications of pathogenicity
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Health Risk
RS2079054125
Conflicting classifications of pathogenicity
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Inborn genetic diseases, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Health Risk
RS529026517
Conflicting classifications of pathogenicity
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Health Risk
RS550187024
Conflicting classifications of pathogenicity
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Inborn genetic diseases, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Health Risk
RS774132595
Conflicting classifications of pathogenicity
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Inborn genetic diseases, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Health Risk
RS776988756
Conflicting classifications of pathogenicity
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Inborn genetic diseases, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Health Risk
RS2066910297
Likely pathogenic
Seizure, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Seizure
Health Risk
RS2077665118
Likely pathogenic
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Health Risk
RS2082439915
Likely pathogenic
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Hepatocellular carcinoma, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Health Risk
All Variants (46)
RSID Category Clinical Significance Conditions
RS117256383 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Hyperekplexia 1, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS140021399 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Inborn genetic diseases, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS144247888 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Inborn genetic diseases, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS1567108397 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2079054125 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Inborn genetic diseases, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS529026517 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS550187024 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Inborn genetic diseases, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS774132595 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Inborn genetic diseases, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS776988756 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Inborn genetic diseases, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2066910297 Health Risk Likely pathogenic Seizure, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Seizure
RS2077665118 Health Risk Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2082439915 Health Risk Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Hepatocellular carcinoma, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2140003018 Health Risk Likely pathogenic Thyroid cancer, nonmedullary, 1
RS2153685300 Health Risk Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2542172605 Health Risk Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2543060389 Health Risk Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2543395293 Health Risk Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2543402379 Health Risk Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2543402445 Health Risk Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2549068048 Health Risk Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2549284450 Health Risk Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2549499286 Health Risk Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2549615253 Health Risk Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS533003321 Health Risk Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS1214630241 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS1352910925 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS1595241291 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2061323841 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2153668269 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2153668310 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2153717733 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2543059711 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2543059971 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2543230821 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2543402851 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2543525337 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2543888962 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2549068250 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2549597698 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2549615369 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2549615601 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2549619648 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2549619766 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2549782519 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS397518420 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2153561495 Health Risk Pathogenic/Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Sign Up to Analyze Your DNA Log In