G625A-F5

**Figure 1\. Pedigree diagram for family G625A\-F5\.**

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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\-F5 | China | Cholecystolithiasis | 6 | 2 | 2022 | [35719381](https://pubmed.ncbi.nlm.nih.gov/35719381/) |  |

The **m.625G\>A** variant in MT\-TF was reported in family G625A\-F5 from China with cholecystolithiasis. The pedigree record reported 6 unaffected and 2 affected maternal relatives, and the carrier table includes 9 listed carriers. Homoplasmy was reported in all listed carriers; 3/9 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\-F5 | G625A\-F5\-I2 | Uninf | F | N | Y | A | 65 | Homo | ND | ND | ND | Cholecystolithiasis |  |
| 2 | 625 | m.625G\>A | G625A\-F5 | G625A\-F5\-II2 | Fam | F | N | Y | A | 43 | Homo | ND | ND | ND | Cholecystolithiasis |  |
| 3 | 625 | m.625G\>A | G625A\-F5 | G625A\-F5\-II4 | Fam | F | Y | Y | A | 42 | Homo | ND | ND | ND | Cholecystolithiasis |  |
| 4 | 625 | m.625G\>A | G625A\-F5 | G625A\-F5\-II6 | Fam | F | N | N | A | 38 | Homo | ND | ND | ND | / |  |
| 5 | 625 | m.625G\>A | G625A\-F5 | G625A\-F5\-III1 | Fam | M | N | N | A | 21 | Homo | ND | ND | ND | / |  |
| 6 | 625 | m.625G\>A | G625A\-F5 | G625A\-F5\-III2 | Fam | M | N | N | A | 19 | Homo | ND | ND | ND | / |  |
| 7 | 625 | m.625G\>A | G625A\-F5 | G625A\-F5\-III3 | Fam | M | N | N | A | 21 | Homo | ND | ND | ND | / |  |
| 8 | 625 | m.625G\>A | G625A\-F5 | G625A\-F5\-III4 | Fam | M | N | N | A | 16 | Homo | ND | ND | ND | / |  |
| 9 | 625 | m.625G\>A | G625A\-F5 | G625A\-F5\-III5 | Fam | F | N | N | A | 6 | Homo | ND | ND | ND | / |  |

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