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MT-TC
A5816G
A5816G-F2
A5816G-F1
C5820A
G5780A
G5780A-F1
G5783A
G5783A-F1
G5783A-F7
G5783A-F8
G5821A
G5821A-F4
G5821A-F3
G5821A-F2
G5821A-F1
T5789C
T5789C-F1
T5794C
T5802C
T5802C-F3
T5802C-F2
T5802C-F1
T5814C
T5814C-F5
T5814C-F4
T5814C-F3
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T5802C-F3
**Figure 1\. Pedigree diagram for family T5802C\-F3\.**  # Pedigree Information | **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** | | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | | 1 | 5802 | m.5802T\>C | T5802C\-F3 | China | Deaf1555 increased penetrance | 7 | 1 | 2020 | [32400865](https://pubmed.ncbi.nlm.nih.gov/32400865/) | Carrying A1555G | The **m.5802T\>C** variant in MT\-TC was reported in family T5802C\-F3 from China with deaf1555 increased penetrance. The pedigree record reported 7 unaffected and 1 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in all listed carriers; 2/2 carriers were affected, and the main clinical manifestation among affected carriers was profound hearing loss. # 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 | 5802 | m.5802T\>C | T5802C\-F3 | T5802C\-F3\-III3 | fam | M | N | Y | A | 21 | Homo | / | / | / | Profound hearing loss | Carrying A1555G | | 2 | 5802 | m.5802T\>C | T5802C\-F3 | T5802C\-F3\-III5 | fam | F | Y | Y | A | 25 | Homo | / | / | / | Profound hearing loss | Carrying A1555G | For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).
Haoying Chen
2026年6月22日 11:40
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