T14484C-F6

**Figure 1\. Pedigree diagram for family T14484C\-F6\.**

![](/media/202606/20260630180201704669.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14484 | m.14484T\>C | T14484C\-F6 | United Kingdom | LHON | 1 | 3 | 1995 | [7611298](https://pubmed.ncbi.nlm.nih.gov/7611298/) | Family 14 |

The **m.14484T\>C** variant in MT\-ND6 was reported in family T14484C\-F6 from United Kingdom with lhon. The pedigree record reported 1 unaffected and 3 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in 2/5 listed carriers; 4/5 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 | 14484 | m.14484T\>C | T14484C\-F6 | T14484C\-F6\-I2 | Fam | M | ND | Y | A | ND | 90% | / | / | / | LHON |  |
| 2 | 14484 | m.14484T\>C | T14484C\-F6 | T14484C\-F6\-I1 | Fam | F | ND | Y | A | ND | Homo | / | / | / | LHON |  |
| 3 | 14484 | m.14484T\>C | T14484C\-F6 | T14484C\-F6\-II1 | Fam | F | ND | Y | A | ND | Homo | / | / | / | LHON |  |
| 4 | 14484 | m.14484T\>C | T14484C\-F6 | T14484C\-F6\-II2 | Fam | M | N | Y | A | ND | / | / | / | / | LHON |  |
| 5 | 14484 | m.14484T\>C | T14484C\-F6 | T14484C\-F6\-II3 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |

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