G7697A-F3

**Figure 1\. Pedigree diagram for family G7697A\-F3\.**

![](/media/202606/e0ace2355c7a4389ad1da08d5a0a0f348888.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 7697 | m.7697G\>A | G7697A\-F3 | China | Familial hypertrophic cardiomyopathy | 32 | 6 | 2009 | [19473338](https://pubmed.ncbi.nlm.nih.gov/19473338/) |  |

The **m.7697G\>A** variant in MT\-CO2 was reported in family G7697A\-F3 from China with familial hypertrophic cardiomyopathy. The pedigree record reported 32 unaffected and 6 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in 0/5 listed carriers; 5/5 carriers were affected, and the main clinical manifestation among affected carriers was mitral regurgitation, aortic regurgitation, af, hypertension, hcm table row, condition, outcome listed as normal.

# 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 | 7697 | m.7697G\>A | G7697A\-F3 | G7697A\-F3\-II1 | Fam | F | N | Y | A | 70 | \+ | / | / | B ND | Mitral regurgitation; aortic regurgitation; AF |  |
| 2 | 7697 | m.7697G\>A | G7697A\-F3 | G7697A\-F3\-II2 | Fam | M | N | Y | A | 62 | \+ | / | / | B ND | Hypertension |  |
| 3 | 7697 | m.7697G\>A | G7697A\-F3 | G7697A\-F3\-III1 | Fam | F | Y | Y | A | 46 | \+ | / | / | B ND | Mitral regurgitation; hypertension |  |
| 4 | 7697 | m.7697G\>A | G7697A\-F3 | G7697A\-F3\-III2 | Fam | M | N | Y | A | 37 | \+ | / | / | B ND | Mitral regurgitation |  |
| 5 | 7697 | m.7697G\>A | G7697A\-F3 | G7697A\-F3\-IV1 | Fam | F | N | Y | A | 24 | \+ | / | / | B ND | HCM table row; condition/outcome listed as Normal |  |

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