G625A-F6

**Figure 1\. Pedigree diagram for family G625A\-F6\.**

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# 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\-F6 | China | Cholecystolithiasis | 3 | 1 | 2022 | [35719381](https://pubmed.ncbi.nlm.nih.gov/35719381/) |  |

The **m.625G\>A** variant in MT\-TF was reported in family G625A\-F6 from China with cholecystolithiasis. The pedigree record reported 3 unaffected and 1 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in all listed carriers; 2/5 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\-F6 | G625A\-F6\-I2 | Uninf | F | N | Y | A | 66 | Homo | ND | ND | ND | Cholecystolithiasis |  |
| 2 | 625 | m.625G\>A | G625A\-F6 | G625A\-F6\-II1 | Fam | M | N | N | A | 46 | Homo | ND | ND | ND | / |  |
| 3 | 625 | m.625G\>A | G625A\-F6 | G625A\-F6\-II2 | Fam | M | N | N | A | 44 | Homo | ND | ND | ND | / |  |
| 4 | 625 | m.625G\>A | G625A\-F6 | G625A\-F6\-II5 | Fam | F | Y | Y | A | 43 | Homo | ND | ND | ND | Cholecystolithiasis |  |
| 5 | 625 | m.625G\>A | G625A\-F6 | G625A\-F6\-III2 | Fam | M | N | N | A | 20 | Homo | ND | ND | ND | / |  |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).