A12146G-F1

**Figure 1\. Pedigree diagram for family A12146G\-F1\.**

![](/media/202606/20260622141411417879.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12146 | m.12146A\>G | A12146G\-F1 | the Netherlands | MELAS | 1 | 2 | 2011 | [21704194](https://pubmed.ncbi.nlm.nih.gov/21704194/) |  |

The **m.12146A\>G** variant in MT\-TH was reported in family A12146G\-F1 from the Netherlands with melas. The pedigree record reported 1 unaffected and 2 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 2/2 carriers were affected, and the main clinical manifestation among affected carriers was melas, stroke\-like episode, status epilepticus.

# 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 | 12146 | m.12146A\>G | A12146G\-F1 | A12146G\-F1\-II1 | Fam | M | Y | Y | A | 20 | 60% | 100% | / | 100% (F) | MELAS |  |
| 2 | 12146 | m.12146A\>G | A12146G\-F1 | A12146G\-F1\-II2 | Fam | M | N | Y | A | 18 | 30% | / | / | / | Stroke\-like episode, status epilepticus |  |

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