View genomic variant #0000015241
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.12052717G>A |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
MFN2_000039 |
MSCV |
MSCV_0015241 |
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 | RCV000002356; RCV000286431; RCV000463055; RCV000857091; RCV003332992; RCV003343597; RCV003332993; | Chromosome | 1:12052717..12052717 | ClinVar Allele ID | 17307 | Disease database name and identifier | MeSH:D030342, MedGen:C0950123|MONDO:MONDO:0011002, MedGen:CN305336, OMIM:601152|MONDO:MONDO:0014906, MedGen:C4310725, OMIM:617087|MONDO:MONDO:0015626, MedGen:C0007959, OMIM:PS118220, Orphanet:166|MONDO:MONDO:0018993, MedGen:C0270914, Orphanet:64746|MedGen:C3661900|MONDO:MONDO:0012231, MedGen:C4721887, OMIM:609260, Orphanet:99947 | ClinVar preferred disease name | Inborn genetic diseases|Neuropathy, hereditary motor and sensory, type 6A|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b%3B|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 2|not provided|Charcot-Marie-Tooth disease type 2A2 | HGVS variant names | NC 000001.10:g.12052717G>A | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA252142|OMIM:608507.0001|UniProtKB:O95140#VAR 018609 | Gene symbol:Gene id. | MFN2:9927 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 28940291 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000789370; | Chromosome | 1:12052717..12052717 | ClinVar Allele ID | 624895 | Disease database name and identifier | MONDO:MONDO:0015626, MedGen:C0007959, OMIM:PS118220, Orphanet:166 | ClinVar preferred disease name | Charcot-Marie-Tooth disease | HGVS variant names | NC 000001.10:g.12052717G>C | ClinVar review status | no assertion criteria provided | Clinical Significance | Uncertain significance | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Gene symbol:Gene id. | MFN2:9927 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 28940291 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV003337861; | Chromosome | 1:12052717..12052717 | ClinVar Allele ID | 2752807 | Disease database name and identifier | MONDO:MONDO:0012231, MedGen:C4721887, OMIM:609260, Orphanet:99947 | ClinVar preferred disease name | Charcot-Marie-Tooth disease type 2A2 | HGVS variant names | NC 000001.10:g.12052717G>T | ClinVar review status | criteria provided, single submitter | Clinical Significance | Likely pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Gene symbol:Gene id. | MFN2:9927 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | 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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