View genomic variant #0000015270
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.12069698C>T |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
MFN2_000022 |
MSCV |
MSCV_0015270 |
dbSNP ID |
- |
Frequency |
- |
Sources |
; clinvar; |
Reference |
- |
Variant remarks |
- |
Genetic origin |
- |
Variant_disease |
- |
Average frequency (large NGS studies) |
0.00038 View details |
Owner |
LOVD |
Variant on transcripts
ClinVar @ MSeqDR | RCVaccession | RCV000002369; RCV000199654; RCV000239892; RCV000472857; RCV000624830; RCV000778183; RCV001173687; RCV001775061; RCV002285136; RCV002247240; RCV002476912; RCV002508915; RCV003231070; RCV003319157; RCV003415627; | Chromosome | 1:12069698..12069698 | Allele frequencies from ExAC | 0.00033 | Allele frequencies from TGP | 0.00020 | ClinVar Allele ID | 17319 | Disease database name and identifier | MONDO:MONDO:0011002, MedGen:CN305336, OMIM:601152|MONDO:MONDO:0014906, MedGen:C4310725, OMIM:617087|MONDO:MONDO:0012231, MedGen:C4721887, OMIM:609260, Orphanet:99947|.|MeSH:D030342, MedGen:C0950123|MONDO:MONDO:0019551, MedGen:C0393807, Orphanet:90120|MedGen:C2079538|.|MONDO:MONDO:0007908, MedGen:C0023804, OMIM:151800, Orphanet:2398|MONDO:MONDO:0015626, MedGen:C0007959, OMIM:PS118220, Orphanet:166|MONDO:MONDO:0018993, MedGen:C0270914, Orphanet:64746|MedGen:C3661900|Human Phenotype Ontology:HP:0002394, Human Phenotype Ontology:HP:0030051, Human Phenotype Ontology:HP:0040083, MedGen:C0427144|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 | ClinVar preferred disease name | Neuropathy, hereditary motor and sensory, type 6A|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b%3B|Charcot-Marie-Tooth disease type 2A2|MFN2-Related Disorders|Inborn genetic diseases|Hereditary motor and sensory neuropathy with optic atrophy|Charcot-Marie-Tooth disease, type 2A|MFN2-related condition|Multiple symmetric lipomatosis|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 2|not provided|Tip-toe gait|Peripheral axonal neuropathy | HGVS variant names | NC 000001.10:g.12069698C>T | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic/Likely pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA252166|OMIM:608507.0013 | Gene symbol:Gene id. | MFN2:9927 | Molecular consequence | SO:0001583|missense variant | Allele origin | | dbSNP ID | 119103267 | 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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