G15927A-F5

**Figure 1\. Pedigree diagram for family G15927A\-F5\.**

![](/media/202606/20260625172616350607.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 15927 | m.15927G\>A | G15927A\-F5 | China | CHD | 3 | 9 | 2013 | [23736300](https://pubmed.ncbi.nlm.nih.gov/23736300/) |  |

The **m.15927G\>A** variant in MT\-TT was reported in family G15927A\-F5 from China with chd. The pedigree record reported 3 unaffected and 9 affected maternal relatives, and the carrier table includes 6 listed carriers. Homoplasmy was reported in all listed carriers; 5/6 carriers were affected, and the main clinical manifestation among affected carriers was chd, ischemia, hypertension, hypercholesterolemia.

# 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 | 15927 | m.15927G\>A | G15927A\-F5 | G15927A\-F5\-III7 | Fam | M | Y | Y | A | 55 | Homo | / | / | / | CHD, ischemia, hypertension, hypercholesterolemia |  |
| 2 | 15927 | m.15927G\>A | G15927A\-F5 | G15927A\-F5\-II2 | Uninf | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 3 | 15927 | m.15927G\>A | G15927A\-F5 | G15927A\-F5\-III2 | Fam | F | N | Y | A | 53 | Homo | / | / | / | CHD |  |
| 4 | 15927 | m.15927G\>A | G15927A\-F5 | G15927A\-F5\-III6 | Fam | F | N | Y | A | 45 | Homo | / | / | / | CHD |  |
| 5 | 15927 | m.15927G\>A | G15927A\-F5 | G15927A\-F5\-III9 | Fam | M | N | Y | A | 49 | Homo | / | / | / | CHD |  |
| 6 | 15927 | m.15927G\>A | G15927A\-F5 | G15927A\-F5\-IV3 | Fam | M | N | Y | A | 30 | Homo | / | / | / | CHD |  |

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