A12280G-F1

**Figure 1\. Pedigree diagram for family A12280G\-F1\.**

![](/media/202606/20260625141633712111.png)

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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 | 12280 | m.12280A\>G | A12280G\-F1 | China | Hypertension | 2 | 4 | 2019 | [30783460](https://pubmed.ncbi.nlm.nih.gov/30783460/) | Carrying T5587C |

The **m.12280A\>G** variant in MT\-TL2 was reported in family A12280G\-F1 from China with hypertension. The pedigree record reported 2 unaffected and 4 affected maternal relatives, and the carrier table includes 7 listed carriers. Homoplasmy was reported in all listed carriers; 5/7 carriers were affected, and the main clinical manifestation among affected carriers was hypertension.

# 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 | 12280 | m.12280A\>G | A12280G\-F1 | A12280G\-F1\-I2 | Uninf | F | N | Y | A | 66 | Homo | / | / | / | Hypertension | Carrying T5587C |
| 2 | 12280 | m.12280A\>G | A12280G\-F1 | A12280G\-F1\-II1 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy | Carrying T5587C |
| 3 | 12280 | m.12280A\>G | A12280G\-F1 | A12280G\-F1\-II4 | Fam | F | Y | Y | A | 45 | Homo | / | / | / | Hypertension | Carrying T5587C |
| 4 | 12280 | m.12280A\>G | A12280G\-F1 | A12280G\-F1\-II6 | Fam | F | N | Y | A | 42 | Homo | / | / | / | Hypertension | Carrying T5587C |
| 5 | 12280 | m.12280A\>G | A12280G\-F1 | A12280G\-F1\-III4 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy | Carrying T5587C |
| 6 | 12280 | m.12280A\>G | A12280G\-F1 | A12280G\-F1\-III5 | Fam | F | N | Y | A | 34 | Homo | / | / | / | Hypertension | Carrying T5587C |
| 7 | 12280 | m.12280A\>G | A12280G\-F1 | A12280G\-F1\-III6 | Fam | F | N | Y | A | 30 | Homo | / | / | / | Hypertension | Carrying T5587C |

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