G12147A-F1

**Figure 1\. Pedigree diagram for family G12147A\-F1\.**

![](/media/202606/20260622141846948222.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12147 | m.12147G\>A | G12147A\-F1 | Italy | MELAS/MERFF | 1 | 1 | 2004 | [14967777](https://pubmed.ncbi.nlm.nih.gov/14967777/) |  |

The **m.12147G\>A** variant in MT\-TH was reported in family G12147A\-F1 from Italy with melas/merff. The pedigree record reported 1 unaffected and 1 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 1/2 carriers were affected, and the main clinical manifestation among affected carriers was melas, merff.

# 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 | 12147 | m.12147G\>A | G12147A\-F1 | G12147A\-F1\-III1 | Fam | M | Y | Y | A | 25 | 25% | 81% | / | / | MELAS/MERFF |  |
| 2 | 12147 | m.12147G\>A | G12147A\-F1 | G12147A\-F1\-III2 | Fam | F | N | N | A | ND | 0% | / | 0% | 0% (H) | Healthy |  |

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