Piebaldism(Partial albinism) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Skin disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Skin disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | KIT/3815 | KIT proto-oncogene, receptor tyrosine kinase | 4q12 | Chr4, NC_000004.12 (54657957..54740715) |
82759 nt | 21 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative Human Phenotype Ontology NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |