NCDN Chromosome 1
Neurochondrin
Upload your DNA to see your personal genotypes for variants in NCDN.
What This Gene Does
This gene encodes a leucine-rich cytoplasmic protein, which is highly similar to a mouse protein that negatively regulates Ca/calmodulin-dependent protein kinase II phosphorylation and may be essential for spatial learning processes. Several alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Armadillo like helical domain containing
Locus Type
gene with protein product
Location
1p34.3
Ensembl
ENSG00000020129
Associated Conditions (1)
Neurodevelopmental disorder with infantile epileptic spasms
Key Variants
RS142794758
Conflicting classifications of pathogenicity
Health Risk
RS572728420
Conflicting classifications of pathogenicity
Health Risk
RS757143203
Conflicting classifications of pathogenicity
Health Risk
RS2148537359
Likely pathogenic
Neurodevelopmental disorder with infantile epileptic spasms, Neurodevelopmental disorder with infantile epileptic spasms
Health Risk
RS2148538021
Likely pathogenic
Neurodevelopmental disorder with infantile epileptic spasms, Neurodevelopmental disorder with infantile epileptic spasms
Health Risk
RS376408289
Likely pathogenic
Neurodevelopmental disorder with infantile epileptic spasms, Neurodevelopmental disorder with infantile epileptic spasms
Health Risk
RS1305972382
Pathogenic
Neurodevelopmental disorder with infantile epileptic spasms, Neurodevelopmental disorder with infantile epileptic spasms
Health Risk
RS2148539394
Pathogenic
Neurodevelopmental disorder with infantile epileptic spasms, Neurodevelopmental disorder with infantile epileptic spasms
Health Risk
RS762580458
Pathogenic
Neurodevelopmental disorder with infantile epileptic spasms, Neurodevelopmental disorder with infantile epileptic spasms
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142794758 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS572728420 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS757143203 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2148537359 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with infantile epileptic spasms, Neurodevelopmental disorder with infantile epileptic spasms |
| RS2148538021 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with infantile epileptic spasms, Neurodevelopmental disorder with infantile epileptic spasms |
| RS376408289 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with infantile epileptic spasms, Neurodevelopmental disorder with infantile epileptic spasms |
| RS1305972382 | Health Risk | Pathogenic | Neurodevelopmental disorder with infantile epileptic spasms, Neurodevelopmental disorder with infantile epileptic spasms |
| RS2148539394 | Health Risk | Pathogenic | Neurodevelopmental disorder with infantile epileptic spasms, Neurodevelopmental disorder with infantile epileptic spasms |
| RS762580458 | Health Risk | Pathogenic | Neurodevelopmental disorder with infantile epileptic spasms, Neurodevelopmental disorder with infantile epileptic spasms |