A3995G-F1

**Figure 1\. Pedigree diagram for family A3995G\-F1\.**

![](/media/202606/20260630031424587231.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3995 | m.3995A\>G | A3995G\-F1 | China | Ataxia | 1 | 1 | 2018 | [29756269](https://pubmed.ncbi.nlm.nih.gov/29756269/) |  |

The **m.3995A\>G** variant in MT\-ND1 was reported in family A3995G\-F1 from China with ataxia. The pedigree record reported 1 unaffected and 1 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 2/3 carriers were affected, and the main clinical manifestation among affected carriers was ataxia.

# 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 | 3995 | m.3995A\>G | A3995G\-F1 | A3995G\-F1\-I1 | Uninf | F | N | N | A | ND | Positive | / | / | / | Healthy |  |
| 2 | 3995 | m.3995A\>G | A3995G\-F1 | A3995G\-F1\-II1 | Fam | F | N | Y | A | ND | Positive | / | / | / | Ataxia |  |
| 3 | 3995 | m.3995A\>G | A3995G\-F1 | A3995G\-F1\-II2 | Fam | M | Y | Y | A | ND | Positive | / | / | / | Ataxia |  |

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