View genomic variant #0000015262
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
Type |
- |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.12062143_12062145del |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
MFN2_000014 |
MSCV |
MSCV_0015262 |
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 | RCV000515554; RCV001288128; | Chromosome | 1:12062143..12062145 | ClinVar Allele ID | 439809 | Disease database name and identifier | MONDO:MONDO:0012231, MedGen:C4721887, OMIM:609260, Orphanet:ORPHA99947|MONDO:MONDO:0014906, MedGen:C4310725, OMIM:617087|MONDO:MONDO:0019551, MedGen:C0393807, Orphanet:ORPHA90120, SNOMED CT:128203003|MedGen:CN517202 | ClinVar preferred disease name | Charcot-Marie-Tooth disease, type 2A2A|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B|Hereditary motor and sensory neuropathy with optic atrophy|not provided | HGVS variant names | NC 000001.10:g.12062143GGC[1] | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Uncertain significance | Variant type | Microsatellite | Sequence Ontology for variant type | SO:0000289 | Gene symbol:Gene id. | MFN2:9927 | Molecular consequence | SO:0001822|inframe deletion | Allele origin | somatic | dbSNP ID | 1553144065 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000653868; RCV000789364; | Chromosome | 1:12062144..12062144 | ClinVar Allele ID | 515030 | Disease database name and identifier | MONDO:MONDO:0015626, MedGen:C0007959, OMIM:PS118220, Orphanet:ORPHA166, SNOMED CT:50548001|MONDO:MONDO:0018993, MedGen:C0270914, Orphanet:ORPHA64746 | ClinVar preferred disease name | Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease, type 2 | HGVS variant names | NC 000001.10:g.12062144G>C | 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 | dbSNP ID | 1553144066 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV001037498; | Chromosome | 1:12062145..12062145 | Allele frequencies from ExAC | 0.00001 | Allele frequencies from TGP | 0.00020 | ClinVar Allele ID | 822642 | Disease database name and identifier | MONDO:MONDO:0018993, MedGen:C0270914, Orphanet:ORPHA64746 | ClinVar preferred disease name | Charcot-Marie-Tooth disease, type 2 | HGVS variant names | NC 000001.10:g.12062145C>T | ClinVar review status | criteria provided, single submitter | 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 | 201165591 | 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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