G15995A

# **General Information**

| **Position** | **15995** | **Variant** | **m.15995G\>A** | **Locus** | **MT\-TP** | **RNA** | **tRNA Pro** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 80\.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.15995G\>A** variant in MT\-TP has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 16%, with a median of 16% overall; affected carriers showed mutation loads from 16%, with a median of 16%. The main clinical manifestations among affected carriers included myoclonus, asthma, cholecystectomy, chronic cough, clumsiness, dysphagia, easy fatigability, handwriting affected, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 15995 | m.15995G\>A | G15995A\-F1 | USA | Mitochondrial cytopathy | 0 | 0 | 2002 | [12400067](https://pubmed.ncbi.nlm.nih.gov/12400067/) | Carrying A8326G |

# **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 | 15995 | m.15995G\>A | G15995A\-F1 | G15995A\-F1\-III3 | De novo | F | Y | Y | A | 21 | 16% | / | / | / | Myoclonus, clumsiness, unsteadiness of gait, handwriting affected, jerking with ambulation, mild proximal muscle weakness, hyperreflexia, milk maid's grasp, dysphagia, easy fatigability, labile mood, chronic cough, hypernasal voice, history of multiple miscarriages, upper respiratory tract infection, asthma, cholecystectomy, pancreatitis | Carrying A8326G(100%) |

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