A3243G-F190

**Figure 1\. Pedigree diagram for family A3243G\-F190\.**

![](/media/202607/A3243G-F190-pedigree_20260701025746425513.png#size=100%&align=left)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3243 | m.3243A\>G | A3243G\-F190 | Netherlands | A3243G longitudinal leukocyte heteroplasmy in pedigree S | 0 | 0 | 1996 | [8829651](https://pubmed.ncbi.nlm.nih.gov/8829651/) | Pedigree S; Table 1 gives leukocyte heteroplasmy at two time points. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F190 from Netherlands with a3243g longitudinal leukocyte heteroplasmy in pedigree s. The pedigree record reported 0 unaffected and 0 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 0/3 carriers were affected, and the main clinical manifestation among affected carriers was not available.

# 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 | 3243 | m.3243A\>G | A3243G\-F190 | A3243G\-F190\-III4 | Fam | F | N | ND | ND | 54 | 6\.7%; 2\.9\-\>6\.3% | / | / | / | Clinical status not subject\-specific in Table 1 | Pedigree S; Table 1 |
| 2 | 3243 | m.3243A\>G | A3243G\-F190 | A3243G\-F190\-IV1 | Fam | F | N | ND | ND | 26 | 13\.0%; 3\.1\-\>12\.0% | / | / | / | Clinical status not subject\-specific in Table 1 | Pedigree S; Table 1 |
| 3 | 3243 | m.3243A\>G | A3243G\-F190 | A3243G\-F190\-IV3 | Fam | F | N | ND | ND | 22 | 8\.9%; 2\.2\-\>6\.3% | / | / | / | Clinical status not subject\-specific in Table 1 | Pedigree S; Table 1 |

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