A8795G

# **General Information**

| **Position** | **8795** | **Variant** | **m.8795A\>G** | **Locus** | **MT\-ATP6** | **Amino\-AcidChange** | **H90R** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | VUS\+ | **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.8795A\>G** variant in MT\-ATP6 has been reported in 1 pedigree. To date, 1 carrier has 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 | 8795 | m.8795A\>G | A8795G\-F1 | Tunisia | MILS protective factor | 0 | 0 | 2009 | [19433277](https://pubmed.ncbi.nlm.nih.gov/19433277/) | Carrying T8993G; T8741G; A9024G |

# **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 | 8795 | m.8795A\>G | A8795G\-F1 | A8795G\-F1\-IV16 | Uninf | F | N | N | A | ND | / | / | / | / | Healthy | Carrying T8993G; T8741G; A9024G |

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