NEFH Chromosome 22
Neurofilament heavy chain
Upload your DNA to see your personal genotypes for variants in NEFH.
What This Gene Does
Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the heavy neurofilament protein. This protein is commonly used as a biomarker of neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS) has been associated with mutations in this gene. [provided by RefSeq, Oct 2008]
Gene Info
Gene Group
Intermediate filaments Type IV
Locus Type
gene with protein product
Location
22q12.2
Ensembl
ENSG00000100285
Associated Conditions (8)
Inborn genetic diseases
NEFH-related disorder
Charcot-Marie-Tooth disease axonal type 2CC
Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis type 1
Peripheral neuropathy
Charcot-Marie-Tooth disease axonal type 2C
susceptibility to
Key Variants
RS1050022799
Conflicting classifications of pathogenicity
Inborn genetic diseases, NEFH-related disorder, Inborn genetic diseases
Health Risk
RS115072194
Conflicting classifications of pathogenicity
Inborn genetic diseases, NEFH-related disorder, Inborn genetic diseases
Health Risk
RS12159483
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1240310622
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1346622497
Conflicting classifications of pathogenicity
Health Risk
RS1359968264
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2CC, Charcot-Marie-Tooth disease axonal type 2CC
Health Risk
RS1361047594
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1375237623
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139219355
Conflicting classifications of pathogenicity
Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2CC, Inborn genetic diseases
Health Risk
RS139580489
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS145061116
Conflicting classifications of pathogenicity
Inborn genetic diseases, Amyotrophic lateral sclerosis, NEFH-related disorder
Health Risk
RS1468605569
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (62)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS780966618 | Health Risk | Conflicting classifications of pathogenicity | NEFH-related disorder, NEFH-related disorder |
| RS918913612 | Health Risk | Conflicting classifications of pathogenicity | NEFH-related disorder, NEFH-related disorder |
| RS997535105 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1602961831 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease axonal type 2C |
| RS2063076425 | Health Risk | Likely pathogenic | — |
| RS2517980084 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS766193278 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2CC, Charcot-Marie-Tooth disease axonal type 2CC |
| RS1569198407 | Health Risk | Pathogenic | — |
| RS2063076388 | Health Risk | Pathogenic | — |
| RS876657412 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2CC, Charcot-Marie-Tooth disease axonal type 2CC |
| RS876657411 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2CC, Charcot-Marie-Tooth disease axonal type 2CC |
| RS606231212 | Health Risk | risk factor | Amyotrophic lateral sclerosis, susceptibility to, Amyotrophic lateral sclerosis |