TMEM38B Chromosome 9
Transmembrane protein 38B
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What This Gene Does
This gene encodes an intracellular monovalent cation channel that functions in maintenance of intracellular calcium release. Mutations in this gene may be associated with autosomal recessive osteogenesis. [provided by RefSeq, Oct 2012]
Associated Conditions (4)
Osteogenesis imperfecta
TMEM38B-related disorder
Inborn genetic diseases
Osteogenesis imperfecta type 14
Key Variants
RS140157299
Conflicting classifications of pathogenicity
Osteogenesis imperfecta, TMEM38B-related disorder, Osteogenesis imperfecta
Health Risk
RS148378635
Conflicting classifications of pathogenicity
TMEM38B-related disorder, TMEM38B-related disorder
Health Risk
RS149026877
Conflicting classifications of pathogenicity
Inborn genetic diseases, TMEM38B-related disorder, Osteogenesis imperfecta type 14
Health Risk
RS199758976
Conflicting classifications of pathogenicity
Osteogenesis imperfecta, Osteogenesis imperfecta
Health Risk
RS201768590
Conflicting classifications of pathogenicity
Osteogenesis imperfecta, Osteogenesis imperfecta
Health Risk
RS201882609
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 14, Osteogenesis imperfecta, Osteogenesis imperfecta type 14
Health Risk
RS778527358
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 14, Osteogenesis imperfecta type 14
Health Risk
RS1424044273
Likely pathogenic
Health Risk
RS1836361994
Likely pathogenic
Osteogenesis imperfecta, Osteogenesis imperfecta
Health Risk
RS2540045622
Likely pathogenic
Osteogenesis imperfecta type 14, Osteogenesis imperfecta type 14
Health Risk
RS1179429999
Pathogenic
Osteogenesis imperfecta type 14, Osteogenesis imperfecta type 14
Health Risk
RS1835212470
Pathogenic
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140157299 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta, TMEM38B-related disorder, Osteogenesis imperfecta |
| RS148378635 | Health Risk | Conflicting classifications of pathogenicity | TMEM38B-related disorder, TMEM38B-related disorder |
| RS149026877 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, TMEM38B-related disorder, Osteogenesis imperfecta type 14 |
| RS199758976 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta, Osteogenesis imperfecta |
| RS201768590 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta, Osteogenesis imperfecta |
| RS201882609 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 14, Osteogenesis imperfecta, Osteogenesis imperfecta type 14 |
| RS778527358 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 14, Osteogenesis imperfecta type 14 |
| RS1424044273 | Health Risk | Likely pathogenic | — |
| RS1836361994 | Health Risk | Likely pathogenic | Osteogenesis imperfecta, Osteogenesis imperfecta |
| RS2540045622 | Health Risk | Likely pathogenic | Osteogenesis imperfecta type 14, Osteogenesis imperfecta type 14 |
| RS1179429999 | Health Risk | Pathogenic | Osteogenesis imperfecta type 14, Osteogenesis imperfecta type 14 |
| RS1835212470 | Health Risk | Pathogenic | — |
| RS2540044767 | Health Risk | Pathogenic | — |
| RS376474086 | Health Risk | Pathogenic | — |