A8108G

# **General Information**

| **Position** | **8108** | **Variant** | **m.8108A\>G** | **Locus** | **MT\-CO2** | **Amino\-AcidChange** | **I175V** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **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.8108A\>G** variant in MT\-CO2 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 auditory neuropathy, absent ABR, hearing loss, and no aminoglycoside exposure.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 8108 | m.8108A\>G | A8108G\-F1 | China | Auditory neuropathy; hearing loss | ND | ND | 2005 | [15637703](https://pubmed.ncbi.nlm.nih.gov/15637703/) |  |

# **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 | 8108 | m.8108A\>G | A8108G\-F1 | A8108G\-F1\-P1 | Uninf | F | Y | Y | A | 27 | \+ | / | / | Present in blood mtDNA sequencing; load ND | Auditory neuropathy; hearing loss; absent ABR; no aminoglycoside exposure |  |

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