T3472C-F2

**Figure 1\. Pedigree diagram for family T3472C\-F2\.**

![](/media/202606/20260630035009386618.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3472 | m.3472T\>C | T3472C\-F2 | Spain | LHON | 1 | 0 | 2014 | [24800637](https://pubmed.ncbi.nlm.nih.gov/24800637/) |  |

The **m.3472T\>C** variant in MT\-ND1 was reported in family T3472C\-F2 from Spain with lhon. The pedigree record reported 1 unaffected and 0 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in all listed carriers; 1/2 carriers were affected, and the main clinical manifestation among affected carriers was lhon.

# 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 | 3472 | m.3472T\>C | T3472C\-F2 | T3472C\-F2\-I1 | Uninf | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 2 | 3472 | m.3472T\>C | T3472C\-F2 | T3472C\-F2\-II1 | Fam | M | Y | Y | A | 40 | Homo | / | / | / | LHON |  |

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