G5821A-F3

**Figure 1\. Pedigree diagram for family G5821A\-F3\.**

![](/media/202606/20260622112809900778.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5821 | m.5821G\>A | G5821A\-F3 | China | Hypertension | 2 | 1 | 2014 | [https://www.chinagene.cn/CN/10\.3724/SP.J.1005\.2014\.0127](https://www.chinagene.cn/CN/10.3724/SP.J.1005.2014.0127) |  |

The **m.5821G\>A** variant in MT\-TC was reported in family G5821A\-F3 from China with hypertension. The pedigree record reported 2 unaffected and 1 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in all listed carriers; 2/4 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 | 5821 | m.5821G\>A | G5821A\-F3 | G5821A\-F3\-I2 | uninf | F | N | N | D | ND | Homo | / | / | / | Healthy |  |
| 2 | 5821 | m.5821G\>A | G5821A\-F3 | G5821A\-F3\-II1 | fam | M | N | N | D | ND | Homo | / | / | / | Healthy |  |
| 3 | 5821 | m.5821G\>A | G5821A\-F3 | G5821A\-F3\-II3 | fam | M | N | Y | D | ND | Homo | / | / | / | Hypertension |  |
| 4 | 5821 | m.5821G\>A | G5821A\-F3 | G5821A\-F3\-II5 | fam | M | Y | Y | D | 81 | Homo | / | / | / | Hypertension |  |

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