ALMS1 Chromosome 2
ALMS1 centrosome and basal body associated protein
Upload your DNA to see your personal genotypes for variants in ALMS1.
What This Gene Does
This gene encodes a protein containing a large tandem-repeat domain as well as additional low complexity regions. The encoded protein functions in microtubule organization, particularly in the formation and maintanance of cilia. Mutations in this gene cause Alstrom syndrome. There is a pseudogene for this gene located adjacent in the same region of chromosome 2. Alternative splice variants have been described but their full length nature has not been determined. [provided by RefSeq, Apr 2014]
Associated Conditions (28)
Alstrom syndrome
Cardiovascular phenotype
Monogenic diabetes
ALMS1-related disorder
Retinal dystrophy
Intellectual disability
Monogenic hearing loss
Early onset severe obesity
Hearing impairment
Adrenocortical carcinoma
hereditary
Familial cancer of breast
Hepatocellular carcinoma
Lymphoma
Glioma susceptibility 1
Retinitis pigmentosa
Bardet-Biedl syndrome
Leber congenital amaurosis
See cases
Cone-rod dystrophy
+8 more conditions
Key Variants
RS1017054461
Conflicting classifications of pathogenicity
Alstrom syndrome, Cardiovascular phenotype, Alstrom syndrome
Health Risk
RS1019805272
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Alstrom syndrome, Cardiovascular phenotype
Health Risk
RS1020163869
Conflicting classifications of pathogenicity
Alstrom syndrome, Cardiovascular phenotype, Alstrom syndrome
Health Risk
RS1021572525
Conflicting classifications of pathogenicity
Alstrom syndrome, Cardiovascular phenotype, Alstrom syndrome
Health Risk
RS1023974968
Conflicting classifications of pathogenicity
Alstrom syndrome, Cardiovascular phenotype, Alstrom syndrome
Health Risk
RS1042904406
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Alstrom syndrome, Cardiovascular phenotype
Health Risk
RS1043429291
Conflicting classifications of pathogenicity
Alstrom syndrome, Cardiovascular phenotype, Alstrom syndrome
Health Risk
RS1047348249
Conflicting classifications of pathogenicity
Alstrom syndrome, Cardiovascular phenotype, Alstrom syndrome
Health Risk
RS1057524883
Conflicting classifications of pathogenicity
Monogenic diabetes, Cardiovascular phenotype, Monogenic diabetes
Health Risk
RS1057524885
Conflicting classifications of pathogenicity
Monogenic diabetes, Cardiovascular phenotype, Alstrom syndrome
Health Risk
RS1131691296
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Alstrom syndrome, Cardiovascular phenotype
Health Risk
RS1177908281
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Alstrom syndrome, Cardiovascular phenotype
Health Risk
All Variants (1249)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2103787360 | Health Risk | Likely pathogenic | Alstrom syndrome, Alstrom syndrome |
| RS2103788334 | Health Risk | Likely pathogenic | Alstrom syndrome, Alstrom syndrome |
| RS2103889898 | Health Risk | Likely pathogenic | Leber congenital amaurosis, Leber congenital amaurosis |
| RS2103889971 | Health Risk | Likely pathogenic | Alstrom syndrome, Alstrom syndrome |
| RS2103892164 | Health Risk | Likely pathogenic | Alstrom syndrome, Alstrom syndrome |
| RS2104056063 | Health Risk | Likely pathogenic | Hearing impairment, Hearing impairment |
| RS2104060044 | Health Risk | Likely pathogenic | Alstrom syndrome, Alstrom syndrome, Alstrom syndrome |
| RS2104063527 | Health Risk | Likely pathogenic | Alstrom syndrome, Cardiovascular phenotype, Alstrom syndrome |
| RS2104104246 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2104189157 | Health Risk | Likely pathogenic | Alstrom syndrome, Alstrom syndrome |
| RS2104189255 | Health Risk | Likely pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS2104203068 | Health Risk | Likely pathogenic | Alstrom syndrome, Alstrom syndrome |
| RS2104216032 | Health Risk | Likely pathogenic | Alstrom syndrome, Alstrom syndrome |
| RS2466035962 | Health Risk | Likely pathogenic | Cardiovascular phenotype, Alstrom syndrome, Cardiovascular phenotype |
| RS2466045771 | Health Risk | Likely pathogenic | Alstrom syndrome, Alstrom syndrome |
| RS2466046164 | Health Risk | Likely pathogenic | Alstrom syndrome, Alstrom syndrome |
| RS2466046577 | Health Risk | Likely pathogenic | Alstrom syndrome, Alstrom syndrome |
| RS2466046580 | Health Risk | Likely pathogenic | Alstrom syndrome, Alstrom syndrome |
| RS2466046617 | Health Risk | Likely pathogenic | Alstrom syndrome, Alstrom syndrome |
| RS2466047422 | Health Risk | Likely pathogenic | Alstrom syndrome, Alstrom syndrome |
| RS2466053037 | Health Risk | Likely pathogenic | Alstrom syndrome, Alstrom syndrome |
| RS2466053151 | Health Risk | Likely pathogenic | Alstrom syndrome, Alstrom syndrome |
| RS2466094345 | Health Risk | Likely pathogenic | Alstrom syndrome, Alstrom syndrome |
| RS2466095122 | Health Risk | Likely pathogenic | Alstrom syndrome, Alstrom syndrome |
| RS2466097572 | Health Risk | Likely pathogenic | ALMS1-related disorder, ALMS1-related disorder |
| RS2466097919 | Health Risk | Likely pathogenic | Alstrom syndrome, Alstrom syndrome |
| RS2466099139 | Health Risk | Likely pathogenic | Alstrom syndrome, Alstrom syndrome |
| RS2466099392 | Health Risk | Likely pathogenic | Alstrom syndrome, Alstrom syndrome |
| RS2466099694 | Health Risk | Likely pathogenic | Alstrom syndrome, Alstrom syndrome |
| RS2466099992 | Health Risk | Likely pathogenic | Alstrom syndrome, Alstrom syndrome |
| RS2466101228 | Health Risk | Likely pathogenic | Alstrom syndrome, Alstrom syndrome |
| RS2466101388 | Health Risk | Likely pathogenic | Alstrom syndrome, Alstrom syndrome |
| RS2466101466 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2466102995 | Health Risk | Likely pathogenic | Alstrom syndrome, Alstrom syndrome |
| RS2466103413 | Health Risk | Likely pathogenic | Alstrom syndrome, Alstrom syndrome |
| RS2466104326 | Health Risk | Likely pathogenic | Alstrom syndrome, Alstrom syndrome |
| RS2466105724 | Health Risk | Likely pathogenic | Alstrom syndrome, Alstrom syndrome |
| RS2466106080 | Health Risk | Likely pathogenic | Alstrom syndrome, Alstrom syndrome |
| RS2466106332 | Health Risk | Likely pathogenic | Alstrom syndrome, Alstrom syndrome |
| RS2466106587 | Health Risk | Likely pathogenic | Alstrom syndrome, Alstrom syndrome |
| RS2466107330 | Health Risk | Likely pathogenic | Alstrom syndrome, Alstrom syndrome |
| RS2466108210 | Health Risk | Likely pathogenic | Alstrom syndrome, Alstrom syndrome |
| RS2466108287 | Health Risk | Likely pathogenic | Alstrom syndrome, Alstrom syndrome |
| RS2466109263 | Health Risk | Likely pathogenic | Alstrom syndrome, Alstrom syndrome |
| RS2466110589 | Health Risk | Likely pathogenic | Alstrom syndrome, Alstrom syndrome |
| RS2466115526 | Health Risk | Likely pathogenic | Alstrom syndrome, Alstrom syndrome |
| RS2466212471 | Health Risk | Likely pathogenic | Alstrom syndrome, Alstrom syndrome |
| RS2466213585 | Health Risk | Likely pathogenic | Alstrom syndrome, Alstrom syndrome |
| RS2466215745 | Health Risk | Likely pathogenic | Alstrom syndrome, Alstrom syndrome |
| RS2466219039 | Health Risk | Likely pathogenic | Alstrom syndrome, Alstrom syndrome |