TOR1AIP1 Chromosome 1
Torsin 1A interacting protein 1
Upload your DNA to see your personal genotypes for variants in TOR1AIP1.
What This Gene Does
This gene encodes a type 2 integral membrane protein that binds A- and B-type lamins. The encoded protein localizes to the inner nuclear membrane and may be involved in maintaining the attachment of the nuclear membrane to the nuclear lamina during cell division. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2016]
Associated Conditions (4)
Autosomal recessive limb-girdle muscular dystrophy type 2Y
TOR1AIP1-related disorder
Inborn genetic diseases
Centronuclear myopathy
Key Variants
RS139690983
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y
Health Risk
RS142574917
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y
Health Risk
RS146976883
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2Y, TOR1AIP1-related disorder, Inborn genetic diseases
Health Risk
RS199933063
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y
Health Risk
RS200993053
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y
Health Risk
RS2148480016
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y
Health Risk
RS2245425
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y
Health Risk
RS534816625
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2Y, Inborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type 2Y
Health Risk
RS750028739
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y
Health Risk
RS776120444
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2Y, Inborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type 2Y
Health Risk
RS112561258
Likely pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y
Health Risk
RS11581962
Likely pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y
Health Risk
All Variants (32)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139690983 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y |
| RS142574917 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y |
| RS146976883 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2Y, TOR1AIP1-related disorder, Inborn genetic diseases |
| RS199933063 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y |
| RS200993053 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y |
| RS2148480016 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y |
| RS2245425 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y |
| RS534816625 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2Y, Inborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type 2Y |
| RS750028739 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y |
| RS776120444 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2Y, Inborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type 2Y |
| RS112561258 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y |
| RS11581962 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y |
| RS1180978840 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y |
| RS1318942147 | Health Risk | Likely pathogenic | TOR1AIP1-related disorder, TOR1AIP1-related disorder |
| RS1366427526 | Health Risk | Likely pathogenic | — |
| RS1571735403 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y |
| RS1647993845 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y |
| RS201518227 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y |
| RS756798409 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y |
| RS771280075 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y |
| RS900977276 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y |
| RS1193188647 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y |
| RS1647734130 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y |
| RS1648457474 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y |
| RS1648544786 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y |
| RS2148468809 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y |
| RS2148468818 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y |
| RS2148468861 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y |
| RS2526558374 | Health Risk | Pathogenic | Centronuclear myopathy, Centronuclear myopathy |
| RS374232191 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y |
| RS778326858 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y |
| RS907592735 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y |