T12201C

# **General Information**

| **Position** | **12201** | **Variant** | **m.12201T\>C** | **Locus** | **MT\-TH** | **RNA** | **tRNA His** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | Pathogenic | **Pathogenicity** | Cfrm \[LP] |

"Pathogenicity" status is derived from published literature or predictions from bioinformatics tools. Researchers and clinicians are cautioned that additional data and/or analysis may still be necessary to confirm the pathological significance of these variants. For more information, please see [Mitofam Info](https://mitofam.com/doc/385/).

# **Pedigree Information**

The **m.12201T\>C** variant in MT\-TH has been reported in 1 pedigree. To date, 24 carriers have been reported. Reported mutation loads ranged from 1\.9% to 99\.8%, with a median of 76\.4% overall; affected carriers showed mutation loads from 28\.1% to 99\.8%, with a median of 88%; unaffected carriers showed mutation loads from 1\.9% to 70\.4%, with a median of 23\.4%. The main clinical manifestations among affected carriers included severe hearing loss, moderate hearing loss, and profound hearing loss.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12201 | m.12201T\>C | [T12201C\-F1](https://mitofam.com/doc/595/) | China | Late\-onset non\-syndromic deafness | 18 | 16 | 2011 | [21931169](https://pubmed.ncbi.nlm.nih.gov/21931169/) |  |

# **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 | 12201 | m.12201T\>C | T12201C\-F1 | T12201C\-F1\-II6 | Fam | F | N | Y | A | 81 | 28\.1% | / | / | / | Moderate hearing loss |  |
| 2 | 12201 | m.12201T\>C | T12201C\-F1 | T12201C\-F1\-II12 | Fam | F | N | Y | A | 69 | 90\.4% | / | / | / | Profound hearing loss |  |
| 3 | 12201 | m.12201T\>C | T12201C\-F1 | T12201C\-F1\-III2 | Fam | F | N | Y | A | 72 | 88% | / | / | / | Profound hearing loss |  |
| 4 | 12201 | m.12201T\>C | T12201C\-F1 | T12201C\-F1\-III4 | Fam | F | N | Y | A | 63 | 88\.3% | / | / | / | Severe hearing loss |  |
| 5 | 12201 | m.12201T\>C | T12201C\-F1 | T12201C\-F1\-III6 | Fam | F | N | Y | A | 57 | 83\.6% | / | / | / | Profound hearing loss |  |
| 6 | 12201 | m.12201T\>C | T12201C\-F1 | T12201C\-F1\-III9 | Fam | M | N | Y | A | 64 | 94\.6% | / | / | / | Profound hearing loss |  |
| 7 | 12201 | m.12201T\>C | T12201C\-F1 | T12201C\-F1\-III11 | Fam | M | Y | Y | A | 52 | 57\.6% | / | / | / | Moderate hearing loss |  |
| 8 | 12201 | m.12201T\>C | T12201C\-F1 | T12201C\-F1\-III13 | Fam | M | N | Y | A | 44 | 65\.5% | / | / | / | Moderate hearing loss |  |
| 9 | 12201 | m.12201T\>C | T12201C\-F1 | T12201C\-F1\-III15 | Fam | M | N | Y | A | 46 | 95\.5% | / | / | / | Severe hearing loss |  |
| 10 | 12201 | m.12201T\>C | T12201C\-F1 | T12201C\-F1\-III17 | Fam | M | N | Y | A | 52 | 99\.7% | / | / | / | Severe hearing loss |  |
| 11 | 12201 | m.12201T\>C | T12201C\-F1 | T12201C\-F1\-III20 | Fam | F | N | Y | A | 35 | 82\.4% | / | / | / | Severe hearing loss |  |
| 12 | 12201 | m.12201T\>C | T12201C\-F1 | T12201C\-F1\-IV1 | Fam | M | N | Y | A | 44 | 94\.2% | / | / | / | Severe hearing loss |  |
| 13 | 12201 | m.12201T\>C | T12201C\-F1 | T12201C\-F1\-IV3 | Fam | M | N | N | A | 37 | 31\.9% | / | / | / | Healthy |  |
| 14 | 12201 | m.12201T\>C | T12201C\-F1 | T12201C\-F1\-IV6 | Fam | F | N | Y | A | 42 | 96\.7% | / | / | / | Severe hearing loss |  |
| 15 | 12201 | m.12201T\>C | T12201C\-F1 | T12201C\-F1\-IV9 | Fam | M | N | Y | A | 41 | 64\.4% | / | / | / | Moderate hearing loss |  |
| 16 | 12201 | m.12201T\>C | T12201C\-F1 | T12201C\-F1\-IV11 | Fam | M | N | Y | A | 39 | 99\.8% | / | / | / | Severe hearing loss |  |
| 17 | 12201 | m.12201T\>C | T12201C\-F1 | T12201C\-F1\-IV14 | Fam | F | N | Y | A | 35 | 86\.7% | / | / | / | Severe hearing loss |  |
| 18 | 12201 | m.12201T\>C | T12201C\-F1 | T12201C\-F1\-IV15 | Fam | M | N | Y | A | 35 | 60\.1% | / | / | / | Moderate hearing loss |  |
| 19 | 12201 | m.12201T\>C | T12201C\-F1 | T12201C\-F1\-IV21 | Fam | M | N | N | A | 27 | 70\.4% | / | / | / | Healthy |  |
| 20 | 12201 | m.12201T\>C | T12201C\-F1 | T12201C\-F1\-IV23 | Fam | F | N | N | A | 31 | 61\.8% | / | / | / | Healthy |  |
| 21 | 12201 | m.12201T\>C | T12201C\-F1 | T12201C\-F1\-IV38 | Fam | M | N | N | A | 13 | 7\.2% | / | / | / | Healthy |  |
| 22 | 12201 | m.12201T\>C | T12201C\-F1 | T12201C\-F1\-V4 | Fam | M | N | N | A | 22 | 23\.4% | / | / | / | Healthy |  |
| 23 | 12201 | m.12201T\>C | T12201C\-F1 | T12201C\-F1\-V7 | Fam | F | N | N | A | 15 | 2\.2% | / | / | / | Healthy |  |
| 24 | 12201 | m.12201T\>C | T12201C\-F1 | T12201C\-F1\-V12 | Fam | F | N | N | A | 8 | 1\.9% | / | / | / | Healthy |  |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).