A15923G-F1

**Figure 1\. Pedigree diagram for family A15923G\-F1\.**

![](/media/202606/20260625172349743562.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 15923 | m.15923A\>G | A15923G\-F1 | Spain | MERRF, exercise intolerance, abdominal pain, vomiting, seizures | 1 | 0 | 2015 | [25765153](https://pubmed.ncbi.nlm.nih.gov/25765153/), [22638997](https://pubmed.ncbi.nlm.nih.gov/22638997/) |  |

The **m.15923A\>G** variant in MT\-TT was reported in family A15923G\-F1 from Spain with merrf, exercise intolerance, abdominal pain, vomiting, seizures. The pedigree record reported 1 unaffected and 0 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 1/2 carriers were affected, and the main clinical manifestation among affected carriers was merrf.

# 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 | 15923 | m.15923A\>G | A15923G\-F1 | A15923G\-F1\-I2 | Uninf | F | N | N | A | ND | / | / | 26% | / | Healthy |  |
| 2 | 15923 | m.15923A\>G | A15923G\-F1 | A15923G\-F1\-II1 | Fam | F | Y | Y | A | 13 | 10% | 78% | 26% | 18%(BM) | MERRF |  |

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