A11375C

# **General Information**

| **Position** | **11375** | **Variant** | **m.11375A\>C** | **Locus** | **MT\-ND4** | **Amino\-AcidChange** | **K206Q** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **APOGEE2** | Pathogenic | **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.11375A\>C** variant in MT\-ND4 has been reported in 1 pedigree. To date, 1 carrier has been reported. Homoplasmy was reported in 1/1 carriers (100%), and 1/1 carriers (100%) were affected. The main clinical manifestations among affected carriers included sporadic Creutzfeldt\-Jakob disease and individual clinical details not reported.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 11375 | m.11375A\>C | A11375C\-F1 | China | sporadic Creutzfeldt\-Jakob disease | 0 | 0 | 2015 | [24667788](https://pubmed.ncbi.nlm.nih.gov/24667788/) | Coexisting variant: m.12631T\>A (ND5 p.S99T) |

# **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 | 11375 | m.11375A\>C | A11375C\-F1 | A11375C\-F1\-P1 | Uninf | ND | Y | Y | A | ND | Homo | / | / | / | Sporadic Creutzfeldt\-Jakob disease; individual clinical details not reported | Original carrier identifier: case no; Coexisting variant: m.12631T\>A (ND5 p.S99T) |

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