ZNF423 Chromosome 16
Zinc finger protein 423
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What This Gene Does
The protein encoded by this gene is a nuclear protein that belongs to the family of Kruppel-like C2H2 zinc finger proteins. It functions as a DNA-binding transcription factor by using distinct zinc fingers in different signaling pathways. Thus, it is thought that this gene may have multiple roles in signal transduction during development. Mutations in this gene are associated with nephronophthisis-14 and Joubert syndrome-19. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2012]
Gene Info
Gene Group
Zinc fingers C2H2-type
Locus Type
gene with protein product
Location
16q12.1
Ensembl
ENSG00000102935
Associated Conditions (6)
Nephronophthisis 14
Tibial muscular dystrophy
ZNF423-related disorder
Cervical cancer
Abnormal brain morphology
Joubert syndrome 19
Key Variants
RS1322586390
Conflicting classifications of pathogenicity
Nephronophthisis 14, Nephronophthisis 14
Health Risk
RS139142141
Conflicting classifications of pathogenicity
Nephronophthisis 14, Nephronophthisis 14
Health Risk
RS142835239
Conflicting classifications of pathogenicity
Nephronophthisis 14, Nephronophthisis 14
Health Risk
RS143393771
Conflicting classifications of pathogenicity
Nephronophthisis 14, Tibial muscular dystrophy, Nephronophthisis 14
Health Risk
RS145272522
Conflicting classifications of pathogenicity
Nephronophthisis 14, ZNF423-related disorder, Nephronophthisis 14
Health Risk
RS145503941
Conflicting classifications of pathogenicity
Nephronophthisis 14, ZNF423-related disorder, Nephronophthisis 14
Health Risk
RS147379553
Conflicting classifications of pathogenicity
Nephronophthisis 14, Nephronophthisis 14
Health Risk
RS151102991
Conflicting classifications of pathogenicity
Nephronophthisis 14, Nephronophthisis 14
Health Risk
RS201499268
Conflicting classifications of pathogenicity
Nephronophthisis 14, Nephronophthisis 14
Health Risk
RS201914334
Conflicting classifications of pathogenicity
Nephronophthisis 14, Nephronophthisis 14
Health Risk
RS34425379
Conflicting classifications of pathogenicity
Nephronophthisis 14, Cervical cancer, ZNF423-related disorder
Health Risk
RS548986682
Conflicting classifications of pathogenicity
Abnormal brain morphology, Nephronophthisis 14, Abnormal brain morphology
Health Risk
All Variants (21)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1322586390 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis 14, Nephronophthisis 14 |
| RS139142141 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis 14, Nephronophthisis 14 |
| RS142835239 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis 14, Nephronophthisis 14 |
| RS143393771 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis 14, Tibial muscular dystrophy, Nephronophthisis 14 |
| RS145272522 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis 14, ZNF423-related disorder, Nephronophthisis 14 |
| RS145503941 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis 14, ZNF423-related disorder, Nephronophthisis 14 |
| RS147379553 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis 14, Nephronophthisis 14 |
| RS151102991 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis 14, Nephronophthisis 14 |
| RS201499268 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis 14, Nephronophthisis 14 |
| RS201914334 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis 14, Nephronophthisis 14 |
| RS34425379 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis 14, Cervical cancer, ZNF423-related disorder |
| RS548986682 | Health Risk | Conflicting classifications of pathogenicity | Abnormal brain morphology, Nephronophthisis 14, Abnormal brain morphology |
| RS745597535 | Health Risk | Conflicting classifications of pathogenicity | Abnormal brain morphology, Nephronophthisis 14, Abnormal brain morphology |
| RS748728165 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis 14, Nephronophthisis 14 |
| RS750555513 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis 14, Nephronophthisis 14 |
| RS756742718 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis 14, Nephronophthisis 14 |
| RS781131703 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis 14, Nephronophthisis 14 |
| RS1596759273 | Health Risk | Likely pathogenic | Nephronophthisis 14, ZNF423-related disorder, Nephronophthisis 14 |
| RS1596763347 | Health Risk | Pathogenic | Joubert syndrome 19, Joubert syndrome 19 |
| RS1596988259 | Health Risk | Pathogenic | Joubert syndrome 19, Joubert syndrome 19 |
| RS886041561 | Health Risk | Pathogenic | — |