NFASC Chromosome 1
Neurofascin
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What This Gene Does
This gene encodes an L1 family immunoglobulin cell adhesion molecule with multiple IGcam and fibronectin domains. The protein functions in neurite outgrowth, neurite fasciculation, and organization of the axon initial segment (AIS) and nodes of Ranvier on axons during early development. Both the AIS and nodes of Ranvier contain high densities of voltage-gated Na+ (Nav) channels which are clustered by interactions with cytoskeletal and scaffolding proteins including this protein, gliomedin, ankyrin 3 (ankyrin-G), and betaIV spectrin. This protein links the AIS extracellular matrix to the intracellular cytoskeleton. This gene undergoes extensive alternative splicing, and the full-length nature of some variants has not been determined.[provided by RefSeq, May 2009]
Gene Info
Gene Group
"Fibronectin type III domain containing|I-set domain containing|Ig-like cell adhesion molecule family"
Locus Type
gene with protein product
Location
1q32.1
Ensembl
ENSG00000163531
Associated Conditions (3)
Neurodevelopmental disorder with central and peripheral motor dysfunction
Inborn genetic diseases
NFASC-related disorder
Key Variants
RS137927139
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with central and peripheral motor dysfunction, Inborn genetic diseases, Neurodevelopmental disorder with central and peripheral motor dysfunction
Health Risk
RS139205012
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with central and peripheral motor dysfunction, Neurodevelopmental disorder with central and peripheral motor dysfunction
Health Risk
RS148589226
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149731085
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS375852982
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with central and peripheral motor dysfunction, NFASC-related disorder, Inborn genetic diseases
Health Risk
RS376788903
Conflicting classifications of pathogenicity
Inborn genetic diseases, Neurodevelopmental disorder with central and peripheral motor dysfunction, Inborn genetic diseases
Health Risk
RS555392324
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS758701595
Likely pathogenic
Neurodevelopmental disorder with central and peripheral motor dysfunction, Neurodevelopmental disorder with central and peripheral motor dysfunction
Health Risk
RS765387808
Likely pathogenic
Neurodevelopmental disorder with central and peripheral motor dysfunction, Neurodevelopmental disorder with central and peripheral motor dysfunction
Health Risk
RS773245304
Likely pathogenic
Neurodevelopmental disorder with central and peripheral motor dysfunction, Neurodevelopmental disorder with central and peripheral motor dysfunction
Health Risk
RS2548815311
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS754724304
Pathogenic
Neurodevelopmental disorder with central and peripheral motor dysfunction, Neurodevelopmental disorder with central and peripheral motor dysfunction
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS137927139 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with central and peripheral motor dysfunction, Inborn genetic diseases, Neurodevelopmental disorder with central and peripheral motor dysfunction |
| RS139205012 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with central and peripheral motor dysfunction, Neurodevelopmental disorder with central and peripheral motor dysfunction |
| RS148589226 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS149731085 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS375852982 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with central and peripheral motor dysfunction, NFASC-related disorder, Inborn genetic diseases |
| RS376788903 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Neurodevelopmental disorder with central and peripheral motor dysfunction, Inborn genetic diseases |
| RS555392324 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS758701595 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with central and peripheral motor dysfunction, Neurodevelopmental disorder with central and peripheral motor dysfunction |
| RS765387808 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with central and peripheral motor dysfunction, Neurodevelopmental disorder with central and peripheral motor dysfunction |
| RS773245304 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with central and peripheral motor dysfunction, Neurodevelopmental disorder with central and peripheral motor dysfunction |
| RS2548815311 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS754724304 | Health Risk | Pathogenic | Neurodevelopmental disorder with central and peripheral motor dysfunction, Neurodevelopmental disorder with central and peripheral motor dysfunction |
| RS755160624 | Health Risk | Pathogenic | Neurodevelopmental disorder with central and peripheral motor dysfunction, Neurodevelopmental disorder with central and peripheral motor dysfunction |
| RS767453033 | Health Risk | Pathogenic | Neurodevelopmental disorder with central and peripheral motor dysfunction, Neurodevelopmental disorder with central and peripheral motor dysfunction |