AAAS Chromosome 12
Aladin WD repeat nucleoporin
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What This Gene Does
The protein encoded by this gene is a member of the WD-repeat family of regulatory proteins and may be involved in normal development of the peripheral and central nervous system. The encoded protein is part of the nuclear pore complex and is anchored there by NDC1. Defects in this gene are a cause of achalasia-addisonianism-alacrima syndrome (AAAS), also called triple-A syndrome or Allgrove syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
Gene Info
Gene Group
"WD repeat domain containing|Nucleoporins"
Locus Type
gene with protein product
Location
12q13.13
Ensembl
ENSG00000094914
Associated Conditions (12)
Glucocorticoid deficiency with achalasia
AAAS-related disorder
Inborn genetic diseases
Microcephaly
Abnormality of the nervous system
Neurodevelopmental disorder
Malignant tumor of esophagus
Achalasia-alacrima syndrome
Spastic paraparesis
Babinski sign
Hyperreflexia
Germ cell tumor of testis
Key Variants
RS1174765635
Conflicting classifications of pathogenicity
Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia
Health Risk
RS140405180
Conflicting classifications of pathogenicity
AAAS-related disorder, Inborn genetic diseases, AAAS-related disorder
Health Risk
RS149487112
Conflicting classifications of pathogenicity
Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia
Health Risk
RS190876509
Conflicting classifications of pathogenicity
Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia
Health Risk
RS200312077
Conflicting classifications of pathogenicity
Health Risk
RS201692749
Conflicting classifications of pathogenicity
Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia
Health Risk
RS368094339
Conflicting classifications of pathogenicity
Glucocorticoid deficiency with achalasia, Inborn genetic diseases, Glucocorticoid deficiency with achalasia
Health Risk
RS548631510
Conflicting classifications of pathogenicity
Health Risk
RS748004231
Conflicting classifications of pathogenicity
Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia
Health Risk
RS761242924
Conflicting classifications of pathogenicity
Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia
Health Risk
RS769964818
Conflicting classifications of pathogenicity
Glucocorticoid deficiency with achalasia, Inborn genetic diseases, Glucocorticoid deficiency with achalasia
Health Risk
RS80027466
Conflicting classifications of pathogenicity
Health Risk
All Variants (93)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1174765635 | Health Risk | Conflicting classifications of pathogenicity | Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia |
| RS140405180 | Health Risk | Conflicting classifications of pathogenicity | AAAS-related disorder, Inborn genetic diseases, AAAS-related disorder |
| RS149487112 | Health Risk | Conflicting classifications of pathogenicity | Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia |
| RS190876509 | Health Risk | Conflicting classifications of pathogenicity | Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia |
| RS200312077 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201692749 | Health Risk | Conflicting classifications of pathogenicity | Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia |
| RS368094339 | Health Risk | Conflicting classifications of pathogenicity | Glucocorticoid deficiency with achalasia, Inborn genetic diseases, Glucocorticoid deficiency with achalasia |
| RS548631510 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS748004231 | Health Risk | Conflicting classifications of pathogenicity | Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia |
| RS761242924 | Health Risk | Conflicting classifications of pathogenicity | Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia |
| RS769964818 | Health Risk | Conflicting classifications of pathogenicity | Glucocorticoid deficiency with achalasia, Inborn genetic diseases, Glucocorticoid deficiency with achalasia |
| RS80027466 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1035139364 | Health Risk | Likely pathogenic | Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia |
| RS1056645432 | Health Risk | Likely pathogenic | — |
| RS1245310422 | Health Risk | Likely pathogenic | — |
| RS1339688889 | Health Risk | Likely pathogenic | Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia |
| RS1351971341 | Health Risk | Likely pathogenic | — |
| RS2121089586 | Health Risk | Likely pathogenic | Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia |
| RS2498605895 | Health Risk | Likely pathogenic | — |
| RS2498608139 | Health Risk | Likely pathogenic | — |
| RS2498626373 | Health Risk | Likely pathogenic | — |
| RS2498627975 | Health Risk | Likely pathogenic | Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia |
| RS2498644145 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS369629444 | Health Risk | Likely pathogenic | — |
| RS758440592 | Health Risk | Likely pathogenic | Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia |
| RS771163929 | Health Risk | Likely pathogenic | — |
| RS773601814 | Health Risk | Likely pathogenic | Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia |
| RS774817639 | Health Risk | Likely pathogenic | Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia |
| RS777711720 | Health Risk | Likely pathogenic | Microcephaly, Abnormality of the nervous system, Microcephaly |
| RS956411998 | Health Risk | Likely pathogenic | — |
| RS1012756707 | Health Risk | Pathogenic | — |
| RS1017700992 | Health Risk | Pathogenic | Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia |
| RS1184877278 | Health Risk | Pathogenic | Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia |
| RS121918548 | Health Risk | Pathogenic | Glucocorticoid deficiency with achalasia, Neurodevelopmental disorder, Glucocorticoid deficiency with achalasia |
| RS121918549 | Health Risk | Pathogenic | Glucocorticoid deficiency with achalasia, AAAS-related disorder, Inborn genetic diseases |
| RS121918551 | Health Risk | Pathogenic | Achalasia-alacrima syndrome, Achalasia-alacrima syndrome |
| RS1297831120 | Health Risk | Pathogenic | Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia |
| RS1339994014 | Health Risk | Pathogenic | — |
| RS1380453534 | Health Risk | Pathogenic | — |
| RS142399878 | Health Risk | Pathogenic | — |
| RS1450008394 | Health Risk | Pathogenic | Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia |
| RS145446970 | Health Risk | Pathogenic | Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia |
| RS1565776390 | Health Risk | Pathogenic | — |
| RS1565781382 | Health Risk | Pathogenic | Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia |
| RS1944347921 | Health Risk | Pathogenic | Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia |
| RS1944356405 | Health Risk | Pathogenic | — |
| RS1944441987 | Health Risk | Pathogenic | — |
| RS2121080959 | Health Risk | Pathogenic | — |
| RS2121081165 | Health Risk | Pathogenic | Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia |
| RS2121081890 | Health Risk | Pathogenic | — |