G625A-F2

**Figure 1\. Pedigree diagram for family G625A\-F2\.**

![](/media/202607/20260721172903494139.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 625 | m.625G\>A | G625A\-F2 | China | Cholecystolithiasis | 1 | 2 | 2022 | [35719381](https://pubmed.ncbi.nlm.nih.gov/35719381/) | Carrying 70\+ mutations |

The **m.625G\>A** variant in MT\-TF was reported in family G625A\-F2 from China with cholecystolithiasis. The pedigree record reported 1 unaffected and 2 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in all listed carriers; 3/4 carriers were affected, and the main clinical manifestation among affected carriers was cholecystolithiasis.

# 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 | 625 | m.625G\>A | G625A\-F2 | G625A\-F2\-I2 | Uninf | F | N | Y | A | 60 | Homo | / | / | / | Cholecystolithiasis | Carrying 70\+ mutations |
| 2 | 625 | m.625G\>A | G625A\-F2 | G625A\-F2\-II1 | Fam | M | N | Y | A | 41 | Homo | / | / | / | Cholecystolithiasis |  |
| 3 | 625 | m.625G\>A | G625A\-F2 | G625A\-F2\-II4 | Fam | F | Y | Y | A | 38 | Homo | / | / | / | Cholecystolithiasis |  |
| 4 | 625 | m.625G\>A | G625A\-F2 | G625A\-F2\-III3 | Fam | M | N | N | A | 14 | Homo | / | / | / | Healthy |  |

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