TRMT10A Chromosome 4
TRNA methyltransferase 10A
Upload your DNA to see your personal genotypes for variants in TRMT10A.
What This Gene Does
This gene encodes a protein that belongs to the tRNA (Guanine-1)-methyltransferase family. A similar gene in yeast modifies several different tRNA species. Mutations in this gene are associated with microcephaly, short stature, and impaired glucose metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
Gene Info
Gene Group
"SPOUT methyltransferase domain containing|DNA/RNA methyltransferases"
Locus Type
gene with protein product
Location
4q23
Ensembl
ENSG00000145331
Associated Conditions (7)
Microcephaly
short stature
and impaired glucose metabolism 1
Inborn genetic diseases
TRMT10A-related disorder
Abnormality of the nervous system
See cases
Key Variants
RS10007569
Conflicting classifications of pathogenicity
Microcephaly, short stature, and impaired glucose metabolism 1
Health Risk
RS137989992
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS140061690
Conflicting classifications of pathogenicity
Microcephaly, short stature, and impaired glucose metabolism 1
Health Risk
RS140905333
Conflicting classifications of pathogenicity
TRMT10A-related disorder, Microcephaly, short stature
Health Risk
RS143207059
Conflicting classifications of pathogenicity
TRMT10A-related disorder, TRMT10A-related disorder
Health Risk
RS1474724198
Conflicting classifications of pathogenicity
Health Risk
RS771561899
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1358214886
Likely pathogenic
Health Risk
RS1418957582
Likely pathogenic
Health Risk
RS1723938282
Likely pathogenic
Microcephaly, short stature, and impaired glucose metabolism 1
Health Risk
RS2476027523
Likely pathogenic
Health Risk
RS2476032136
Likely pathogenic
Microcephaly, short stature, and impaired glucose metabolism 1
Health Risk
All Variants (21)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS10007569 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly, short stature, and impaired glucose metabolism 1 |
| RS137989992 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS140061690 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly, short stature, and impaired glucose metabolism 1 |
| RS140905333 | Health Risk | Conflicting classifications of pathogenicity | TRMT10A-related disorder, Microcephaly, short stature |
| RS143207059 | Health Risk | Conflicting classifications of pathogenicity | TRMT10A-related disorder, TRMT10A-related disorder |
| RS1474724198 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS771561899 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1358214886 | Health Risk | Likely pathogenic | — |
| RS1418957582 | Health Risk | Likely pathogenic | — |
| RS1723938282 | Health Risk | Likely pathogenic | Microcephaly, short stature, and impaired glucose metabolism 1 |
| RS2476027523 | Health Risk | Likely pathogenic | — |
| RS2476032136 | Health Risk | Likely pathogenic | Microcephaly, short stature, and impaired glucose metabolism 1 |
| RS1383664881 | Health Risk | Pathogenic | Microcephaly, short stature, and impaired glucose metabolism 1 |
| RS142895837 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1724152035 | Health Risk | Pathogenic | — |
| RS1724246827 | Health Risk | Pathogenic | Microcephaly, short stature, and impaired glucose metabolism 1 |
| RS2476027546 | Health Risk | Pathogenic | Microcephaly, short stature, and impaired glucose metabolism 1 |
| RS587777744 | Health Risk | Pathogenic | Microcephaly, short stature, and impaired glucose metabolism 1 |
| RS1314619609 | Health Risk | Pathogenic/Likely pathogenic | Abnormality of the nervous system, Abnormality of the nervous system |
| RS587777743 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly, short stature, and impaired glucose metabolism 1 |
| RS748994888 | Health Risk | Pathogenic/Likely pathogenic | See cases, Microcephaly, short stature |