G12192A-F7

**Figure 1\. Pedigree diagram for family G12192A\-F7\.**

![](/media/202606/20260622142224415054.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12192 | m.12192G\>A | G12192A\-F7 | China | Hearing Loss | 7 | 4 | 2019 | [30854964](https://pubmed.ncbi.nlm.nih.gov/30854964/) | Carrying G15927A |

The **m.12192G\>A** variant in MT\-TH was reported in family G12192A\-F7 from China with hearing loss. The pedigree record reported 7 unaffected and 4 affected maternal relatives, and the carrier table includes 12 listed carriers. Homoplasmy was reported in 11/12 listed carriers; 5/12 carriers were affected, and the main clinical manifestation among affected carriers was hearing loss.

# 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 | 12192 | m.12192G\>A | G12192A\-F7 | G12192A\-F7\-II1 | Fam | M | N | Y | A | 78 | Homo | / | / | / | Hearing Loss | Carrying G15927A |
| 2 | 12192 | m.12192G\>A | G12192A\-F7 | G12192A\-F7\-II4 | Fam | F | N | Y | A | 80 | Homo | / | / | / | Hearing Loss | Carrying G15927A |
| 3 | 12192 | m.12192G\>A | G12192A\-F7 | G12192A\-F7\-III8 | Fam | F | Y | Y | A | 59 | Homo | / | / | / | Hearing Loss | Carrying G15927A |
| 4 | 12192 | m.12192G\>A | G12192A\-F7 | G12192A\-F7\-III9 | Fam | M | N | Y | A | 57 | Homo | / | / | / | Hearing Loss | Carrying G15927A |
| 5 | 12192 | m.12192G\>A | G12192A\-F7 | G12192A\-F7\-IV8 | Fam | M | N | Y | A | 26 | Homo | / | / | / | Hearing Loss | Carrying G15927A |
| 6 | 12192 | m.12192G\>A | G12192A\-F7 | G12192A\-F7\-III7 | Uninf | M | N | N | A | 55 | 0% | / | / | / | Healthy |  |
| 7 | 12192 | m.12192G\>A | G12192A\-F7 | G12192A\-F7\-II6 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 8 | 12192 | m.12192G\>A | G12192A\-F7 | G12192A\-F7\-II8 | Fam | F | N | N | D | ND | Homo | / | / | / | Healthy |  |
| 9 | 12192 | m.12192G\>A | G12192A\-F7 | G12192A\-F7\-III11 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 10 | 12192 | m.12192G\>A | G12192A\-F7 | G12192A\-F7\-III13 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 11 | 12192 | m.12192G\>A | G12192A\-F7 | G12192A\-F7\-IV5 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 12 | 12192 | m.12192G\>A | G12192A\-F7 | G12192A\-F7\-IV6 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy |  |

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