View genomic variant #0000015249
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Type |
- |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.12058934C>T |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
MFN2_000028 |
MSCV |
MSCV_0015249 |
dbSNP ID |
- |
Frequency |
- |
Sources |
; clinvar; |
Reference |
- |
Variant remarks |
- |
Genetic origin |
- |
Variant_disease |
- |
Average frequency (large NGS studies) |
Variant not found in online data sets |
Owner |
LOVD |
Variant on transcripts
ClinVar @ MSeqDR | RCVaccession | RCV000201150; RCV000414991; RCV000470638; RCV000857096; RCV001257085; | Chromosome | 1:12058934..12058934 | Allele frequencies from ExAC | 0.00001 | ClinVar Allele ID | 213789 | Disease database name and identifier | MONDO:MONDO:0018993, MedGen:C0270914, Orphanet:64746|MONDO:MONDO:0015626, MedGen:C0007959, OMIM:PS118220, Orphanet:166|MONDO:MONDO:0012231, MedGen:C4721887, OMIM:609260, Orphanet:99947|Human Phenotype Ontology:HP:0003442, Human Phenotype Ontology:HP:0003714, Human Phenotype Ontology:HP:0006975, Human Phenotype Ontology:HP:0008944, Human Phenotype Ontology:HP:0008949, Human Phenotype Ontology:HP:0009001, MedGen:C1836451|Human Phenotype Ontology:HP:0003477, Human Phenotype Ontology:HP:0006814, Human Phenotype Ontology:HP:0006842, Human Phenotype Ontology:HP:0007169, Human Phenotype Ontology:HP:0008304, MONDO:MONDO:0004183, MedGen:C1263857|Human Phenotype Ontology:HP:0002460, Human Phenotype Ontology:HP:0002598, Human Phenotype Ontology:HP:0002935, Human Phenotype Ontology:HP:0003497, Human Phenotype Ontology:HP:0006940, Human Phenotype Ontology:HP:0009008, MedGen:C0427065|MedGen:C3661900 | ClinVar preferred disease name | Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 2A2|Distal lower limb amyotrophy|Peripheral axonal neuropathy|Distal muscle weakness|not provided | HGVS variant names | NC 000001.10:g.12058934C>T | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Pathogenic(1)|Likely pathogenic(4)|Uncertain significance(1) | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA277612 | Gene symbol:Gene id. | MFN2:9927 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 773159585 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
MSeqDR View Variant at Gbrowse Mitomap Mitochondrial Variant Phenotype Information:
None Ensembl Variant Phenotype Information:
None
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