G5821A-F2

**Figure 1\. Pedigree diagram for family G5821A\-F2\.**

![](/media/202606/20260622112727874011.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\-F2 | China | Intrahepatic cholestasis | 0 | 1 | 2012 | [https://kns.cnki.net/KCMS/detail/detail.aspx?dbcode\=CJFD\&filename\=DDKZ201204002\&imgcode\=1731](https://kns.cnki.net/KCMS/detail/detail.aspx?dbcode=CJFD&filename=DDKZ201204002&imgcode=1731) |  |

The **m.5821G\>A** variant in MT\-TC was reported in family G5821A\-F2 from China with intrahepatic cholestasis. The pedigree record reported 0 unaffected and 1 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in all listed carriers; 1/2 carriers were affected, and the main clinical manifestation among affected carriers was intrahepatic cholestasis.

# 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\-F2 | G5821A\-F2\-I2 | uninf | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 2 | 5821 | m.5821G\>A | G5821A\-F2 | G5821A\-F2\-II1 | fam | M | Y | Y | D | 1 | Homo | / | / | / | Intrahepatic cholestasis |  |

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