A14696G

# **General Information**

| **Position** | **14696** | **Variant** | **m.14696A\>G** | **Locus** | **MT\-TE** | **RNA** | **tRNA Glu** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 22\.00% | **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.14696A\>G variant in MT\-TE has been reported in 2 pedigrees. To date, 7 carriers have been reported. Homoplasmy was reported in 3/7 carriers (42\.9%), and 4/7 carriers (57\.1%) 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 | 14696 | m.14696A\>G |[ A14696G\-F1](https://mitofam.com/doc/927/) | China | Hypertension | 3 | 2 | 2024 | [38222291](https://pubmed.ncbi.nlm.nih.gov/38222291/) |  |
| 2 | 14696 | m.14696A\>G | [A14696G\-F2 ](https://mitofam.com/doc/928/)| Finland | Psychomotor delay, muscle hypotonia, severe dysphasia, motor deficits | 3 | 0 | 2004 | [15286228](https://pubmed.ncbi.nlm.nih.gov/15286228/) |  |

# **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 | 14696 | m.14696A\>G | A14696G\-F1 | A14696G\-F1\-I2 | Uninf | F | N | Y | A | 88 | Homo | / | / | / | Hypertension |  |
| 2 | 14696 | m.14696A\>G | A14696G\-F1 | A14696G\-F1\-II6 | Fam | F | Y | Y | A | 66 | Homo | / | / | / | Hypertension |  |
| 3 | 14696 | m.14696A\>G | A14696G\-F1 | A14696G\-F1\-III4 | Fam | F | N | Y | A | 40 | Homo | / | / | / | Hypertension |  |
| 4 | 14696 | m.14696A\>G | A14696G\-F2 | A14696G\-F2\-I2 | Uninf | F | N | N | A | ND | 15% | / | / | / | Healthy |  |
| 5 | 14696 | m.14696A\>G | A14696G\-F2 | A14696G\-F2\-II2 | Fam | F | N | N | A | ND | 66% | / | / | / | Healthy |  |
| 6 | 14696 | m.14696A\>G | A14696G\-F2 | A14696G\-F2\-III1 | Fam | F | Y | Y | A | 6 years 1 month | 99% | 98% | / | / | Psychomotor delay, muscle hypotonia, severe dysphasia, motor deficits |  |
| 7 | 14696 | m.14696A\>G | A14696G\-F2 | A14696G\-F2\-III2 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |

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