KIAA1549 Chromosome 7
KIAA1549
Upload your DNA to see your personal genotypes for variants in KIAA1549.
What This Gene Does
The protein encoded by this gene belongs to the UPF0606 family. This gene has been found to be fused to the BRAF oncogene in many cases of pilocytic astrocytoma. The fusion results from 2Mb tandem duplications at 7q34. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]
Associated Conditions (5)
Inborn genetic diseases
Retinal dystrophy
KIAA1549-related disorder
Retinitis pigmentosa 86
Retinitis pigmentosa
Key Variants
RS112263100
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1181178656
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1292283693
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS138709216
Conflicting classifications of pathogenicity
Retinal dystrophy, Inborn genetic diseases, KIAA1549-related disorder
Health Risk
RS139052197
Conflicting classifications of pathogenicity
Inborn genetic diseases, Retinal dystrophy, Inborn genetic diseases
Health Risk
RS139412672
Conflicting classifications of pathogenicity
KIAA1549-related disorder, Inborn genetic diseases, KIAA1549-related disorder
Health Risk
RS140350435
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1411890432
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141705276
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141831128
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1449932411
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS145489214
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
All Variants (51)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1554417054 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |