A1630G-F1

**Figure 1\. Pedigree diagram for family A1630G\-F1\.**

![](/media/202606/20260625173938749914.png)

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# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 1630 | m.1630A\>G | A1630G\-F1 | Germany | MNGIE\-like gastrointestinal dysmotility and cachexia | 1 | 0 | 2009 | [19252805](https://pubmed.ncbi.nlm.nih.gov/19252805/) |  |

The **m.1630A\>G** variant in MT\-TV was reported in family A1630G\-F1 from Germany with mngie\-like gastrointestinal dysmotility and cachexia. 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 mngie\-like gastrointestinal dysmotility, cachexia, sensorineural hearing loss, visual impairment, psychomotor delay.

# 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 | 1630 | m.1630A\>G | A1630G\-F1 | A1630G\-F1\-II1 | Fam | F | Y | Y | A | 16 | 70% | \>90% | / | 80%(Myoblasts) | MNGIE\-like gastrointestinal dysmotility, cachexia, sensorineural hearing loss, visual impairment, psychomotor delay |  |
| 2 | 1630 | m.1630A\>G | A1630G\-F1 | A1630G\-F1\-I2 | Fam | F | N | N | A | ND | 60% | / | / | / | Healthy |  |

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