A12158G-F1

**Figure 1\. Pedigree diagram for family A12158G\-F1\.**

![](/media/202606/20260622141522682048.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12158 | m.12158A\>G | A12158G\-F1 | South Korea | MELAS | 4 | 0 | 2022 | [35092007](https://pubmed.ncbi.nlm.nih.gov/35092007/) |  |

The **m.12158A\>G** variant in MT\-TH was reported in family A12158G\-F1 from South Korea with melas. The pedigree record reported 4 unaffected and 0 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in 0/5 listed carriers; 1/5 carriers were affected, and the main clinical manifestation among affected carriers was melas.

# 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 | 12158 | m.12158A\>G | A12158G\-F1 | A12158G\-F1\-I2 | Uninf | F | N | N | A | ND | 3\.1% | / | / | / | Healthy |  |
| 2 | 12158 | m.12158A\>G | A12158G\-F1 | A12158G\-F1\-II1 | Fam | F | N | N | A | ND | 0% | / | / | / | Healthy |  |
| 3 | 12158 | m.12158A\>G | A12158G\-F1 | A12158G\-F1\-II2 | Fam | F | N | N | A | ND | 0% | / | / | / | Healthy |  |
| 4 | 12158 | m.12158A\>G | A12158G\-F1 | A12158G\-F1\-II3 | Fam | F | N | N | A | ND | 9\.1% | / | / | / | Healthy |  |
| 5 | 12158 | m.12158A\>G | A12158G\-F1 | A12158G\-F1\-II4 | Fam | M | Y | Y | A | 23 | 45\.5% | / | / | / | MELAS |  |

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