C14482G

# **General Information**

| **Position** | **14482** | **Variant** | **m.14482C\>G** | **Locus** | **MT\-ND6** | **Amino\-AcidChange** | **M64I** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \+ | **APOGEE2** | Pathogenic | **Pathogenicity** | Cfrm \[LP] |

"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.14482C\>G** variant in MT\-ND6 has been reported in 1 pedigree. To date, 2 carriers have been reported. Homoplasmy was reported in 2/2 carriers (100%), and 1/2 carriers (50%) were affected. The main clinical manifestations among affected carriers included LHON, bilateral optic atrophy, centrocecal scotomata, onset at 18, and temporal optic disc pallor.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14482 | m.14482C\>G | [C14482G\-F1](https://mitofam.com/doc/2105/) | Turkey | LHON | 1 | 0 | 1998 | [9443868](https://pubmed.ncbi.nlm.nih.gov/9443868/) |  |

# **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 | 14482 | m.14482C\>G | C14482G\-F1 | C14482G\-F1\-VIII20 | Fam | M | Y | Y | A | 18 | / | / | / | Homo (ND) | LHON; bilateral optic atrophy; onset at 18; centrocecal scotomata; temporal optic disc pallor | Original label VIII\-20 |
| 2 | 14482 | m.14482C\>G | C14482G\-F1 | C14482G\-F1\-VIII21 | Fam | F | N | N | A | ND | / | / | / | Homo (ND) | Healthy | Original label VIII\-21 |

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