T10454C-F1

**Figure 1\. Pedigree diagram for family T10454C\-F1\.**

![](/media/202606/20260622171910283456.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 10454 | m.10454T\>C | T10454C\-F1 | China | Hypertension | 1 | 4 | 2021 | [33625761](https://pubmed.ncbi.nlm.nih.gov/33625761/) |  |

The **m.10454T\>C** variant in MT\-TR was reported in family T10454C\-F1 from China with hypertension. The pedigree record reported 1 unaffected and 4 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in all listed carriers; 5/5 carriers were affected, and the main clinical manifestation among affected carriers was hypertension.

# 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 | 10454 | m.10454T\>C | T10454C\-F1 | T10454C\-F1\-I2 | Uninf | F | N | Y | A | 88 | Homo | / | / | / | Hypertension |  |
| 2 | 10454 | m.10454T\>C | T10454C\-F1 | T10454C\-F1\-II3 | Fam | M | N | Y | A | 60 | Homo | / | / | / | Hypertension |  |
| 3 | 10454 | m.10454T\>C | T10454C\-F1 | T10454C\-F1\-II5 | Fam | M | N | Y | A | 63 | Homo | / | / | / | Hypertension |  |
| 4 | 10454 | m.10454T\>C | T10454C\-F1 | T10454C\-F1\-II8 | Fam | F | Y | Y | A | 66 | Homo | / | / | / | Hypertension |  |
| 5 | 10454 | m.10454T\>C | T10454C\-F1 | T10454C\-F1\-III5 | Fam | F | N | Y | A | 33 | Homo | / | / | / | Hypertension |  |

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