G7697A-F2

**Figure 1\. Pedigree diagram for family G7697A\-F2\.**

![](/media/202606/278082262ed14a8bb311eebdff3b4c7d1437.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\-F2 | China | Familial hypertrophic cardiomyopathy | 5 | 4 | 2009 | [19473338](https://pubmed.ncbi.nlm.nih.gov/19473338/) |  |

The **m.7697G\>A** variant in MT\-CO2 was reported in family G7697A\-F2 from China with familial hypertrophic cardiomyopathy. The pedigree record reported 5 unaffected and 4 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in 0/5 listed carriers; 4/5 carriers were affected, and the main clinical manifestation among affected carriers was mitral regurgitation, pah, 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\-F2 | G7697A\-F2\-I1 | Uninf | F | N | Y | A | 74 | \+ | / | / | B ND | Mitral regurgitation; PAH; AF |  |
| 2 | 7697 | m.7697G\>A | G7697A\-F2 | G7697A\-F2\-II2 | Fam | M | N | Y | A | 49 | \+ | / | / | B ND | Mitral regurgitation; hypertension |  |
| 3 | 7697 | m.7697G\>A | G7697A\-F2 | G7697A\-F2\-II3 | Fam | F | Y | Y | A | 46 | \+ | / | / | B ND | Mitral regurgitation; PAH |  |
| 4 | 7697 | m.7697G\>A | G7697A\-F2 | G7697A\-F2\-III1 | Fam | F | N | Y | A | 18 | \+ | / | / | B ND | HCM table row; condition/outcome listed as Normal |  |
| 5 | 7697 | m.7697G\>A | G7697A\-F2 | G7697A\-F2\-II1 | Fam | M | N | N | A | ND | \+ | / | / | B ND | Unaffected family member; target\-positive normal by Table 4/Table 6 |  |

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