ATL3 Chromosome 11
Atlastin GTPase 3
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What This Gene Does
This gene encodes a member of a family of dynamin-like, integral membrane GTPases. The encoded protein is required for the proper formation of the network of interconnected tubules of the endoplasmic reticulum. Mutations in this gene may be associated with hereditary sensory neuropathy type IF. Alternatively spliced transcript variants that encode distinct isoforms have been described. [provided by RefSeq, Feb 2014]
Gene Info
Gene Group
Atlastins
Locus Type
gene with protein product
Location
11q13.1
Ensembl
ENSG00000184743
Associated Conditions (5)
Neuropathy
hereditary sensory
type 1F
Inborn genetic diseases
ATL3-related disorder
Key Variants
RS112847445
Conflicting classifications of pathogenicity
Neuropathy, hereditary sensory, type 1F
Health Risk
RS1455374554
Conflicting classifications of pathogenicity
Neuropathy, hereditary sensory, type 1F
Health Risk
RS182466831
Conflicting classifications of pathogenicity
Neuropathy, hereditary sensory, type 1F
Health Risk
RS199522335
Conflicting classifications of pathogenicity
Neuropathy, hereditary sensory, type 1F
Health Risk
RS200016062
Conflicting classifications of pathogenicity
Neuropathy, hereditary sensory, type 1F
Health Risk
RS200495090
Conflicting classifications of pathogenicity
Neuropathy, hereditary sensory, type 1F
Health Risk
RS200622841
Conflicting classifications of pathogenicity
Neuropathy, hereditary sensory, type 1F
Health Risk
RS202227458
Conflicting classifications of pathogenicity
Neuropathy, hereditary sensory, type 1F
Health Risk
RS372869718
Conflicting classifications of pathogenicity
Neuropathy, hereditary sensory, type 1F
Health Risk
RS553188281
Conflicting classifications of pathogenicity
Neuropathy, hereditary sensory, type 1F
Health Risk
RS567304524
Conflicting classifications of pathogenicity
Neuropathy, hereditary sensory, type 1F
Health Risk
RS573065562
Conflicting classifications of pathogenicity
Neuropathy, hereditary sensory, type 1F
Health Risk
All Variants (24)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112847445 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory, type 1F |
| RS1455374554 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory, type 1F |
| RS182466831 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory, type 1F |
| RS199522335 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory, type 1F |
| RS200016062 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory, type 1F |
| RS200495090 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory, type 1F |
| RS200622841 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory, type 1F |
| RS202227458 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory, type 1F |
| RS372869718 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory, type 1F |
| RS553188281 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory, type 1F |
| RS567304524 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory, type 1F |
| RS573065562 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory, type 1F |
| RS61745653 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory, type 1F |
| RS745644667 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory, type 1F |
| RS747719105 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory, type 1F |
| RS749897277 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory, type 1F |
| RS750850786 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory, type 1F |
| RS755717662 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory, type 1F |
| RS765720770 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory, type 1F |
| RS767929561 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Neuropathy, hereditary sensory |
| RS773136140 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory, type 1F |
| RS779242170 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory, type 1F |
| RS1939486740 | Health Risk | Pathogenic | Neuropathy, hereditary sensory, type 1F |
| RS587777108 | Health Risk | Pathogenic | Neuropathy, hereditary sensory, type 1F |