C12264T-F1

**Figure 1\. Pedigree diagram for family C12264T\-F1\.**

![](/media/202606/20260622173611359343.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12264 | m.12264C\>T | C12264T\-F1 | USA | Cataract | 8 | 0 | 2012 | [22369973](https://pubmed.ncbi.nlm.nih.gov/22369973/) |  |

The **m.12264C\>T** variant in MT\-TS2 was reported in family C12264T\-F1 from USA with cataract. The pedigree record reported 8 unaffected and 0 affected maternal relatives, and the carrier table includes 9 listed carriers. Homoplasmy was reported in 0/9 listed carriers; 1/9 carriers were affected, and the main clinical manifestation among affected carriers was cataract.

# 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 | 12264 | m.12264C\>T | C12264T\-F1 | C12264T\-F1\-I2 | Uninf | F | N | N | A | ND | 1% | / | / | 18% (BM) | Healthy |  |
| 2 | 12264 | m.12264C\>T | C12264T\-F1 | C12264T\-F1\-II2 | Fam | F | N | N | D | ND | / | / | / | / | Healthy |  |
| 3 | 12264 | m.12264C\>T | C12264T\-F1 | C12264T\-F1\-II3 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 4 | 12264 | m.12264C\>T | C12264T\-F1 | C12264T\-F1\-II4 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 5 | 12264 | m.12264C\>T | C12264T\-F1 | C12264T\-F1\-II5 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 6 | 12264 | m.12264C\>T | C12264T\-F1 | C12264T\-F1\-III1 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 7 | 12264 | m.12264C\>T | C12264T\-F1 | C12264T\-F1\-III2 | Fam | M | Y | Y | A | 19 | 34% | 100% | / | 100% (BM) | Cataract |  |
| 8 | 12264 | m.12264C\>T | C12264T\-F1 | C12264T\-F1\-III4 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 9 | 12264 | m.12264C\>T | C12264T\-F1 | C12264T\-F1\-III5 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |

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