T14063C

# **General Information**

| **Position** | **14063** | **Variant** | **m.14063T\>C** | **Locus** | **MT\-ND5** | **Amino\-AcidChange** | **I576T** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **APOGEE2** | Benign | **Pathogenicity** | Reported |

"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.14063T\>C** variant in MT\-ND5 has been reported in 2 pedigrees. To date, 2 carriers have been reported. Homoplasmy was reported in 2/2 carriers (100%), and 2/2 carriers (100%) were affected. The main clinical manifestations among affected carriers included LHON.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14063 | m.14063T\>C | T14063C\-F1 | ND | LHON | 0 | 0 | 2013 | [23304069](https://pubmed.ncbi.nlm.nih.gov/23304069/) | Le329 T14063C singleton added from PMID 23304069; separate variant row. |
| 2 | 14063 | m.14063T\>C | T14063C\-F2 | ND | LHON | 0 | 0 | 2013 | [23304069](https://pubmed.ncbi.nlm.nih.gov/23304069/) | Le337 T14063C singleton added from PMID 23304069; separate variant row. |

# **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 | 14063 | m.14063T\>C | T14063C\-F1 | T14063C\-F1\-P1 | Uninf | ND | Y | Y | ND | ND | Homo/not quantified | / | / | / | LHON | Target variant listed in same Le subject; limited carrier metadata. |
| 2 | 14063 | m.14063T\>C | T14063C\-F2 | T14063C\-F2\-P1 | Uninf | ND | Y | Y | ND | ND | Homo/not quantified | / | / | / | LHON | Target variant listed in same Le subject; limited carrier metadata. |

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