C14701T

# General Information

| **Position** | **14701** | **Variant** | **m.14701C\>T** | **Locus** | **MT\-TE** | **RNA** | **tRNA Glu** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **mitoTIP** | 20\.60% | **Pathogenicity** | Reported |

"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.14701C\>T variant in MT\-TE has been reported in 1 pedigree. To date, 10 carriers have been reported. Homoplasmy was reported in 8/10 carriers (80%), and 8/10 carriers (80%) were affected. The main clinical manifestations among affected carriers included No specific clinical features were available for affected carriers..

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14701 | m.14701C\>T | [C14701T\-F1](https://mitofam.com/doc/932/) | Denmark | Clumsiness, gait disturbance, limb ataxia, dysarthria, muscle weakness, lipoma, hypotonia, fatigue, feeding difficulties, developmental delay, hyporeflexia, muscle atrophy, fatigability, hearing impairment | 7 | 7 | 2021 | [34400372](https://pubmed.ncbi.nlm.nih.gov/34400372/) |  |

# 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 | 14701 | m.14701C\>T | C14701T\-F1 | C14701T\-F1\-III2 | Fam | F | N | Y | A | 64 | Homo | Homo | / | / | Clumsiness, stumbling, gait impairment, limb ataxia, dysarthria, muscle weakness |  |
| 2 | 14701 | m.14701C\>T | C14701T\-F1 | C14701T\-F1\-V1 | Fam | F | Y | Y | A | 18 months | Homo | Homo | / | / | Hypotonia, lactic acidosis, fatigue, feeding difficulties, failure to thrive, muscle weakness, motor developmental delay |  |
| 3 | 14701 | m.14701C\>T | C14701T\-F1 | C14701T\-F1\-VI1 | Fam | M | N | Y | A | 4 year 2 months | Homo | Homo | / | / | Hyporeflexia/areflexia, delayed GMD and linguistic skills, balance/coordination problems, slight muscle weakness, lower\-extremity hypotrophy, fatigability, minimal hearing impairment |  |
| 4 | 14701 | m.14701C\>T | C14701T\-F1 | C14701T\-F1\-VI2 | Fam | F | N | Y | A | 4 months | Homo | Homo | / | / | Hypotonia, lactic acidosis, fatigue, feeding difficulties, gastrointestinal problems, failure to thrive, muscle weakness, motor developmental delay |  |
| 5 | 14701 | m.14701C\>T | C14701T\-F1 | C14701T\-F1\-IV2 | Fam | F | N | Y | A | ND | Homo | Homo | / | / | Lipoma of upper back |  |
| 6 | 14701 | m.14701C\>T | C14701T\-F1 | C14701T\-F1\-IV3 | Fam | F | N | Y | A | ND | Homo | Homo | / | / | Lipoma of upper back |  |
| 7 | 14701 | m.14701C\>T | C14701T\-F1 | C14701T\-F1\-V4 | Fam | F | N | Y | A | ND | Homo | Homo | / | / | Clumsy, thin lower extremities, lipoma of upper back |  |
| 8 | 14701 | m.14701C\>T | C14701T\-F1 | C14701T\-F1\-VI3 | Fam | F | N | N | A | ND | Homo | Homo | / | / | Healthy |  |
| 9 | 14701 | m.14701C\>T | C14701T\-F1 | C14701T\-F1\-IV4 | Fam | M | N | Y | A | ND | / | / | / | / | Lipoma of upper back |  |
| 10 | 14701 | m.14701C\>T | C14701T\-F1 | C14701T\-F1\-V2 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |

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