MTMR14 Chromosome 3
Myotubularin related protein 14
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What This Gene Does
This gene encodes a myotubularin-related protein. The encoded protein is a phosphoinositide phosphatase that specifically dephosphorylates phosphatidylinositol 3,5-biphosphate and phosphatidylinositol 3-phosphate. Mutations in this gene are correlated with autosomal dominant centronuclear myopathy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 18.[provided by RefSeq, Apr 2010]
Gene Info
Gene Group
"Myotubularins|Phosphoinositide phosphatases"
Locus Type
gene with protein product
Location
3p25.3
Ensembl
ENSG00000163719
Associated Conditions (3)
MTMR14-related disorder
Autosomal dominant centronuclear myopathy
Chronic lymphocytic leukemia/small lymphocytic lymphoma
Key Variants
RS115607360
Conflicting classifications of pathogenicity
Health Risk
RS142525507
Conflicting classifications of pathogenicity
MTMR14-related disorder, MTMR14-related disorder
Health Risk
RS189325962
Conflicting classifications of pathogenicity
Health Risk
RS199688667
Conflicting classifications of pathogenicity
Health Risk
RS375826804
Conflicting classifications of pathogenicity
Health Risk
RS754777692
Conflicting classifications of pathogenicity
Autosomal dominant centronuclear myopathy, Autosomal dominant centronuclear myopathy
Health Risk
RS757251437
Conflicting classifications of pathogenicity
Autosomal dominant centronuclear myopathy, Autosomal dominant centronuclear myopathy
Health Risk
RS769182078
Conflicting classifications of pathogenicity
Health Risk
RS771401637
Conflicting classifications of pathogenicity
Chronic lymphocytic leukemia/small lymphocytic lymphoma, Chronic lymphocytic leukemia/small lymphocytic lymphoma
Health Risk
RS993417750
Conflicting classifications of pathogenicity
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS115607360 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS142525507 | Health Risk | Conflicting classifications of pathogenicity | MTMR14-related disorder, MTMR14-related disorder |
| RS189325962 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199688667 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS375826804 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS754777692 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant centronuclear myopathy, Autosomal dominant centronuclear myopathy |
| RS757251437 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant centronuclear myopathy, Autosomal dominant centronuclear myopathy |
| RS769182078 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS771401637 | Health Risk | Conflicting classifications of pathogenicity | Chronic lymphocytic leukemia/small lymphocytic lymphoma, Chronic lymphocytic leukemia/small lymphocytic lymphoma |
| RS993417750 | Health Risk | Conflicting classifications of pathogenicity | — |