T10003C

# **General Information**

| **Position** | **10003** | **Variant** | **m.10003T\>C** | **Locus** | **MT\-TG** | **RNA** | **tRNA Gly** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **mitoTIP** | 0\.40% | **Pathogenicity** | Reported |

"Pathogenicity" status is derived from published literature or predictions from bioinformatics tools. Researchers and clinicians are cautioned that additional data and/or analysis may still be necessary to confirm the pathological significance of these variants. For more information, please see [Mitofam Info](https://mitofam.com/doc/385/).

# **Pedigree Information**

The **m.10003T\>C** variant in MT\-TG has been reported in 1 pedigree. To date, 10 carriers have been reported. Homoplasmy was reported in 10/10 carriers (100%), and 6/10 carriers (60%) were affected. The main clinical manifestations among affected carriers included T2DM, glucose intolerance, mild deafness, and moderate deafness.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 10003 | m.10003T\>C | [T10003C\-F1](https://mitofam.com/doc/577/) | China | Diabetes, deafness | 5 | 5 | 2015 | 25615420, 26134044 |  |

# **Carrier Information**

| **No.** | **Position** | **Variant** | **Family ID** | **Carrier ID** | **Type (Fam/De novo/Uninf)** | **Gender (F/M)** | **Proband (Y/N)** | **Affected (Y/N)** | **Die/Alive(D/A)** | **Age** | **Blood Mutant Level** | **Muscle Mutant level** | **Urine Mutant level** | **Other Mutant level** | **Clinical Features** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 10003 | m.10003T\>C | T10003C\-F1 | T10003C\-F1\-II2 | Fam | F | Y | Y | A | 76 | Homo | / | / | Homo(F) | T2DM,Moderate deafness |  |
| 2 | 10003 | m.10003T\>C | T10003C\-F1 | T10003C\-F1\-II3 | Fam | M | N | Y | A | 74 | Homo | / | / | Homo(F) | Glucose intolerance,Mild deafness |  |
| 3 | 10003 | m.10003T\>C | T10003C\-F1 | T10003C\-F1\-III2 | Fam | F | N | Y | A | 48 | Homo | / | / | Homo(F) | T2DM |  |
| 4 | 10003 | m.10003T\>C | T10003C\-F1 | T10003C\-F1\-III4 | Fam | F | N | Y | A | 56 | Homo | / | / | Homo(F) | T2DM |  |
| 5 | 10003 | m.10003T\>C | T10003C\-F1 | T10003C\-F1\-III6 | Fam | F | N | Y | A | 53 | Homo | / | / | Homo(F) | T2DM |  |
| 6 | 10003 | m.10003T\>C | T10003C\-F1 | T10003C\-F1\-III7 | Fam | M | N | Y | A | 48 | Homo | / | / | Homo(F) | T2DM |  |
| 7 | 10003 | m.10003T\>C | T10003C\-F1 | T10003C\-F1\-IV1 | Fam | M | N | N | A | 29 | Homo | / | / | Homo(F) | Glucose intolerance |  |
| 8 | 10003 | m.10003T\>C | T10003C\-F1 | T10003C\-F1\-IV2 | Fam | M | N | N | A | 33 | Homo | / | / | Homo(F) | Glucose intolerance |  |
| 9 | 10003 | m.10003T\>C | T10003C\-F1 | T10003C\-F1\-IV3 | Fam | F | N | N | A | 31 | Homo | / | / | Homo(F) | Glucose intolerance |  |
| 10 | 10003 | m.10003T\>C | T10003C\-F1 | T10003C\-F1\-IV4 | Fam | M | N | N | A | 29 | Homo | / | / | Homo(F) | Glucose intolerance |  |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).