G6962A

# **General Information**

| **Position** | **6962** | **Variant** | **m.6962G\>A** | **Locus** | **MT\-CO1** | **Amino\-AcidChange** | **L353L** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **APOGEE2** | NA | **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.6962G\>A** variant in MT\-CO1 has been reported in 1 pedigree. To date, 0 carriers have been reported. Mutation\-load data were not available. The main clinical manifestations among affected carriers included No specific clinical features were available for affected carriers..

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 6962 | m.6962G\>A | G6962A\-F1 | Chinese | Coronary heart disease | 11 | 6 | 2014 | [24470521](https://pubmed.ncbi.nlm.nih.gov/24470521/) | Family\-level record; harbored G15927A; G6962A was proposed as a modifier candidate |

# **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** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |

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