TMEM106B Chromosome 7
Transmembrane protein 106B
Upload your DNA to see your personal genotypes for variants in TMEM106B.
What This Gene Does
Enables ATPase binding activity. Involved in dendrite morphogenesis and lysosome localization. Located in endosome and lysosomal membrane. Implicated in hypomyelinating leukodystrophy 16. [provided by Alliance of Genome Resources, Jul 2025]
Associated Conditions (4)
Inborn genetic diseases
Leukodystrophy
hypomyelinating
16
Key Variants
RS1188352454
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS147247575
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS753522100
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1554310600
Pathogenic/Likely pathogenic
Leukodystrophy, hypomyelinating, 16
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1188352454 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS147247575 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS753522100 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1554310600 | Health Risk | Pathogenic/Likely pathogenic | Leukodystrophy, hypomyelinating, 16 |