NIN Chromosome 14
Ninein
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What This Gene Does
This gene encodes one of the proteins important for centrosomal function. This protein is important for positioning and anchoring the microtubules minus-ends in epithelial cells. Localization of this protein to the centrosome requires three leucine zippers in the central coiled-coil domain. Multiple alternatively spliced transcript variants that encode different isoforms have been reported. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
EF-hand domain containing
Locus Type
gene with protein product
Location
14q22.1
Ensembl
ENSG00000100503
Associated Conditions (4)
NIN-related disorder
Seckel syndrome 7
Hepatocellular carcinoma
Joubert syndrome 3
Key Variants
RS1038281307
Conflicting classifications of pathogenicity
Health Risk
RS1167864898
Conflicting classifications of pathogenicity
Health Risk
RS139379777
Conflicting classifications of pathogenicity
Health Risk
RS141405524
Conflicting classifications of pathogenicity
NIN-related disorder, NIN-related disorder
Health Risk
RS142733791
Conflicting classifications of pathogenicity
Seckel syndrome 7, NIN-related disorder, Hepatocellular carcinoma
Health Risk
RS147946706
Conflicting classifications of pathogenicity
Health Risk
RS148630367
Conflicting classifications of pathogenicity
NIN-related disorder, NIN-related disorder
Health Risk
RS200441923
Conflicting classifications of pathogenicity
Seckel syndrome 7, Seckel syndrome 7
Health Risk
RS200952556
Conflicting classifications of pathogenicity
Health Risk
RS201242002
Conflicting classifications of pathogenicity
Health Risk
RS201363211
Conflicting classifications of pathogenicity
Health Risk
RS2505808015
Conflicting classifications of pathogenicity
Health Risk
All Variants (31)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1038281307 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1167864898 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS139379777 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS141405524 | Health Risk | Conflicting classifications of pathogenicity | NIN-related disorder, NIN-related disorder |
| RS142733791 | Health Risk | Conflicting classifications of pathogenicity | Seckel syndrome 7, NIN-related disorder, Hepatocellular carcinoma |
| RS147946706 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS148630367 | Health Risk | Conflicting classifications of pathogenicity | NIN-related disorder, NIN-related disorder |
| RS200441923 | Health Risk | Conflicting classifications of pathogenicity | Seckel syndrome 7, Seckel syndrome 7 |
| RS200952556 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201242002 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201363211 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2505808015 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS371633643 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS375323558 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS375891968 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS375931384 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS376627489 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS387907308 | Health Risk | Conflicting classifications of pathogenicity | Seckel syndrome 7, Seckel syndrome 7 |
| RS547438612 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS61741547 | Health Risk | Conflicting classifications of pathogenicity | NIN-related disorder, NIN-related disorder |
| RS754668208 | Health Risk | Conflicting classifications of pathogenicity | Seckel syndrome 7, Seckel syndrome 7 |
| RS764095375 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS768962576 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS776608678 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS781399662 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS78251482 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS78280523 | Health Risk | Conflicting classifications of pathogenicity | NIN-related disorder, NIN-related disorder |
| RS1310109020 | Health Risk | Likely pathogenic | Seckel syndrome 7, Seckel syndrome 7 |
| RS2505891787 | Health Risk | Likely pathogenic | Seckel syndrome 7, Seckel syndrome 7 |
| RS373844676 | Health Risk | Likely pathogenic | Seckel syndrome 7, Joubert syndrome 3, Seckel syndrome 7 |
| RS747680111 | Health Risk | Pathogenic | Seckel syndrome 7, Seckel syndrome 7 |