AHI1 Chromosome 6
Abelson helper integration site 1
Upload your DNA to see your personal genotypes for variants in AHI1.
What This Gene Does
This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
Gene Info
Gene Group
WD repeat domain containing
Locus Type
gene with protein product
Location
6q23.3
Ensembl
ENSG00000135541
Associated Conditions (20)
Joubert syndrome
Joubert syndrome 3
Joubert syndrome with ocular defect
AHI1-related disorder
Inborn genetic diseases
Optic atrophy
Retinal dystrophy
Intellectual disability
Cholangiocarcinoma
Lung cancer
Nephronophthisis
Type 2 diabetes mellitus
Retinitis pigmentosa
See cases
Joubert syndrome 1
Rod-cone dystrophy
Joubert syndrome and related disorders
Leber congenital amaurosis
Typical Joubert syndrome MRI findings
Global developmental delay
Key Variants
RS1171943827
Conflicting classifications of pathogenicity
Joubert syndrome, Joubert syndrome 3, Joubert syndrome
Health Risk
RS1205189543
Conflicting classifications of pathogenicity
Joubert syndrome, Joubert syndrome 3, Joubert syndrome
Health Risk
RS121434351
Conflicting classifications of pathogenicity
Joubert syndrome 3, Joubert syndrome, Joubert syndrome with ocular defect
Health Risk
RS1227775795
Conflicting classifications of pathogenicity
Joubert syndrome, Inborn genetic diseases, Joubert syndrome
Health Risk
RS1352407748
Conflicting classifications of pathogenicity
Joubert syndrome, Inborn genetic diseases, Joubert syndrome
Health Risk
RS139944375
Conflicting classifications of pathogenicity
Joubert syndrome, Joubert syndrome 3, AHI1-related disorder
Health Risk
RS142518256
Conflicting classifications of pathogenicity
Joubert syndrome, Joubert syndrome 3, Joubert syndrome
Health Risk
RS142704960
Conflicting classifications of pathogenicity
Joubert syndrome, Inborn genetic diseases, Optic atrophy
Health Risk
RS1434415693
Conflicting classifications of pathogenicity
Joubert syndrome, Joubert syndrome 3, Joubert syndrome
Health Risk
RS143485622
Conflicting classifications of pathogenicity
Joubert syndrome, Joubert syndrome
Health Risk
RS1448108151
Conflicting classifications of pathogenicity
Joubert syndrome 3, Joubert syndrome 3
Health Risk
RS145372075
Conflicting classifications of pathogenicity
AHI1-related disorder, AHI1-related disorder
Health Risk
All Variants (296)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1784023146 | Health Risk | Likely pathogenic | Joubert syndrome, Joubert syndrome |
| RS1785757537 | Health Risk | Likely pathogenic | Joubert syndrome, Joubert syndrome |
| RS1788846426 | Health Risk | Likely pathogenic | Joubert syndrome 3, Joubert syndrome 3 |
| RS1789162289 | Health Risk | Likely pathogenic | Joubert syndrome 3, Joubert syndrome 3 |
| RS1789200069 | Health Risk | Likely pathogenic | Joubert syndrome, Joubert syndrome |
| RS2127973751 | Health Risk | Likely pathogenic | Joubert syndrome, Joubert syndrome |
| RS2128012406 | Health Risk | Likely pathogenic | Joubert syndrome 3, Joubert syndrome 3 |
| RS2128056526 | Health Risk | Likely pathogenic | Joubert syndrome and related disorders, Joubert syndrome and related disorders |
| RS2128081334 | Health Risk | Likely pathogenic | Joubert syndrome, Joubert syndrome |
| RS2128081478 | Health Risk | Likely pathogenic | Joubert syndrome 3, Joubert syndrome 3 |
| RS2128100946 | Health Risk | Likely pathogenic | Joubert syndrome, Joubert syndrome |
| RS2128485171 | Health Risk | Likely pathogenic | Joubert syndrome, Joubert syndrome, Joubert syndrome |
| RS2483057578 | Health Risk | Likely pathogenic | Joubert syndrome, Joubert syndrome |
| RS2483268122 | Health Risk | Likely pathogenic | Joubert syndrome, Joubert syndrome |
| RS2483588824 | Health Risk | Likely pathogenic | Joubert syndrome 3, Joubert syndrome 3 |
| RS2483589449 | Health Risk | Likely pathogenic | Joubert syndrome, Joubert syndrome |
| RS2484508005 | Health Risk | Likely pathogenic | Joubert syndrome, Joubert syndrome |
| RS2484604421 | Health Risk | Likely pathogenic | Joubert syndrome, Joubert syndrome |
| RS2484976975 | Health Risk | Likely pathogenic | Joubert syndrome, Joubert syndrome 3, Joubert syndrome |
| RS2484977012 | Health Risk | Likely pathogenic | Joubert syndrome, Joubert syndrome |
| RS2485022126 | Health Risk | Likely pathogenic | AHI1-related disorder, AHI1-related disorder |
| RS2485337123 | Health Risk | Likely pathogenic | Joubert syndrome, Joubert syndrome |
| RS758715635 | Health Risk | Likely pathogenic | Joubert syndrome, Joubert syndrome |
| RS761245375 | Health Risk | Likely pathogenic | Joubert syndrome, Joubert syndrome |
| RS773278338 | Health Risk | Likely pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS780069818 | Health Risk | Likely pathogenic | Joubert syndrome, Joubert syndrome |
| RS797045224 | Health Risk | Likely pathogenic | Joubert syndrome 3, Retinitis pigmentosa, Joubert syndrome 3 |
| RS893650468 | Health Risk | Likely pathogenic | Joubert syndrome, Joubert syndrome and related disorders, Joubert syndrome |
| RS1057524843 | Health Risk | Pathogenic | — |
| RS1157749145 | Health Risk | Pathogenic | Joubert syndrome, Joubert syndrome |
| RS1165489547 | Health Risk | Pathogenic | Joubert syndrome, Joubert syndrome |
| RS1179403052 | Health Risk | Pathogenic | Joubert syndrome, Joubert syndrome |
| RS1181159671 | Health Risk | Pathogenic | Joubert syndrome and related disorders, Joubert syndrome, Joubert syndrome |
| RS121434348 | Health Risk | Pathogenic | Joubert syndrome 3, Joubert syndrome, Joubert syndrome 3 |
| RS121434349 | Health Risk | Pathogenic | Joubert syndrome 3, Joubert syndrome, Joubert syndrome 3 |
| RS1217172210 | Health Risk | Pathogenic | Joubert syndrome, Joubert syndrome |
| RS1223838167 | Health Risk | Pathogenic | Joubert syndrome, Joubert syndrome |
| RS1236041314 | Health Risk | Pathogenic | Joubert syndrome, Joubert syndrome |
| RS1276908141 | Health Risk | Pathogenic | Joubert syndrome, Joubert syndrome |
| RS1307676365 | Health Risk | Pathogenic | Joubert syndrome, Joubert syndrome |
| RS1369946782 | Health Risk | Pathogenic | Joubert syndrome, Joubert syndrome |
| RS1410559569 | Health Risk | Pathogenic | Joubert syndrome, Joubert syndrome |
| RS1425381964 | Health Risk | Pathogenic | Joubert syndrome, Joubert syndrome |
| RS1457793607 | Health Risk | Pathogenic | Joubert syndrome, Joubert syndrome |
| RS1459452503 | Health Risk | Pathogenic | Joubert syndrome, Joubert syndrome and related disorders, Joubert syndrome |
| RS1480087006 | Health Risk | Pathogenic | Joubert syndrome, Joubert syndrome |
| RS1554208431 | Health Risk | Pathogenic | Joubert syndrome, Joubert syndrome |
| RS1554214237 | Health Risk | Pathogenic | Joubert syndrome, Joubert syndrome |
| RS1554347012 | Health Risk | Pathogenic | Leber congenital amaurosis, Leber congenital amaurosis |
| RS1554350503 | Health Risk | Pathogenic | Joubert syndrome, Joubert syndrome |