G5783A-F7

**Figure 1\. Pedigree diagram for family G5783A\-F7\.**

![](/media/202606/20260622010509933029.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5783 | m.5783G\>A | G5783A\-F7 | China | MELAS | 1 | 0 | 2024 | [38881794](https://pubmed.ncbi.nlm.nih.gov/38881794/) |  |

The **m.5783G\>A** variant in MT\-TC was reported in family G5783A\-F7 from China with melas. The pedigree record reported 1 unaffected and 0 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 1/2 carriers were affected, and the main clinical manifestation among affected carriers was melas.

# 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 | 5783 | m.5783G\>A | G5783A\-F7 | G5783A\-F7\-II2 | uninf | F | Y | Y | A | 66 | 0% | / | 94\.15% | / | MELAS |  |
| 2 | 5783 | m.5783G\>A | G5783A\-F7 | G5783A\-F7\-III1 | fam | F | N | N | A | ND | 0% | / | / | / | Healthy |  |

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