A15992G

# **General Information**

| **Position** | **15992** | **Variant** | **m.15992A\>G** | **Locus** | **MT\-TP** | **RNA** | **tRNA Pro** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | nr | **Heteroplasmy** | nr | **mitoTIP** | 17\.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.15992A\>G** variant in MT\-TP has been reported in 1 pedigree. To date, 2 carriers have been reported. Homoplasmy was reported in 2/2 carriers (100%), and 2/2 carriers (100%) were affected. The main clinical manifestations among affected carriers included hypertension.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 15992 | m.15992A\>G | A15992G\-F1 | China | Hypertension | 1 | 7 | 2022 | [34346491](https://pubmed.ncbi.nlm.nih.gov/34346491/) | Carrying G15077A |

# **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 | 15992 | m.15992A\>G | A15992G\-F7 | A15992G\-F1\-I2 | Uninf | F | N | Y | A | ND | Homo | / | / | / | Hypertension | Carrying G15077A |
| 2 | 15992 | m.15992A\>G | A15992G\-F1 | A15992G\-F1\-II5 | Fam | F | Y | Y | A | 31 | Homo | / | / | / | Hypertension | Carrying G15077A |

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