T7512C-F4

**Figure 1\. Pedigree diagram for family T7512C\-F4\.**

![](/media/202607/T7512C-F4-pedigree_20260701032326240613.png#size=100%&align=left)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 7512 | m.7512T\>C | T7512C\-F4 | Sweden | MELAS | 2 | 0 | 2008 | [17894844](https://pubmed.ncbi.nlm.nih.gov/17894844/) |  |

The **m.7512T\>C** variant in MT\-TS1 was reported in family T7512C\-F4 from Sweden with melas. The pedigree record reported 2 unaffected and 0 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 1/3 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 | 7512 | m.7512T\>C | T7512C\-F4 | T7512C\-F4\-I2 | Uninf | F | N | N | A | ND | 35% | / | / | / | Healthy |  |
| 2 | 7512 | m.7512T\>C | T7512C\-F4 | T7512C\-F4\-II1 | Fam | F | Y | Y | A | 4 | 24% | 91% | / | / | MELAS |  |
| 3 | 7512 | m.7512T\>C | T7512C\-F4 | T7512C\-F4\-II2 | Fam | F | N | N | A | ND | 0% | / | / | 46% (H) | Healthy |  |

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