T7501C

# **General Information**

| **Position** | **7501** | **Variant** | **m.7501T\>C** | **Locus** |  | **RNA** |  |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** |  | **Heteroplasmy** |  | **mitoTIP** | N/A | **Pathogenicity** |  |

"Pathogenicity" status is derived from published literature or predictions from bioinformatics tools. Researchers and clinicians are cautioned that additional data and/or analysis may still be necessary to confirm the pathological significance of these variants. For more information, please see [Mitofam Info](https://mitofam.com/doc/385/).

# **Pedigree Information**

The **m.7501T\>C** variant in MT\-TS1 has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 17%, with a median of 17% overall; affected carriers showed mutation loads from 17%, with a median of 17%. The main clinical manifestations among affected carriers included tetralogy of Fallot.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 7501 | m.7501T\>C | T7501C\-F1 | Turkey | Tetralogy of Fallot | ND | ND | 2014 | [23735083](https://pubmed.ncbi.nlm.nih.gov/23735083/) | Carrying G9804A and C8481T |

# **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 | 7501 | m.7501T\>C | T7501C\-F1 | T7501C\-F1\-P1 | Uninf | M | Y | Y | A | 7 months | / | / | / | 17% (Heart) | Tetralogy of Fallot | Carrying G9804A and C8481T |

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