View genomic variant #0000000009
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Type |
subst |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.12052716C>T |
Published as |
- |
GERP |
3.570 |
Segregation |
- |
DB-ID |
MFN2_000005 See all 2 reported entries |
MSCV |
MSCV_0010009 |
dbSNP ID |
rs119103263 |
Frequency |
- |
Sources |
; |
Reference |
16835246;16437557;15064763 |
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 | RCV000789702; RCV001091326; RCV001206471; | Chromosome | 1:12052716..12052716 | ClinVar Allele ID | 624894 | Disease database name and identifier | MONDO:MONDO:0018993, MedGen:C0270914, Orphanet:64746|MedGen:C3661900|MONDO:MONDO:0015626, MedGen:C0007959, OMIM:PS118220, Orphanet:166 | ClinVar preferred disease name | Charcot-Marie-Tooth disease type 2|not provided|Charcot-Marie-Tooth disease | HGVS variant names | NC 000001.10:g.12052716C>G | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | 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 | 119103263 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000002364; RCV000190245; RCV000200468; RCV000199279; RCV000415132; RCV001173686; RCV003162206; | Chromosome | 1:12052716..12052716 | ClinVar Allele ID | 17315 | Disease database name and identifier | MeSH:D030342, MedGen:C0950123|MONDO:MONDO:0015626, MedGen:C0007959, OMIM:PS118220, Orphanet:166|MONDO:MONDO:0018993, MedGen:C0270914, Orphanet:64746|MedGen:CN517202|MONDO:MONDO:0019551, MedGen:C0393807, Orphanet:90120|MONDO:MONDO:0012231, MedGen:C4721887, OMIM:609260, Orphanet:99947|Human Phenotype Ontology:HP:0000252, Human Phenotype Ontology:HP:0001366, Human Phenotype Ontology:HP:0005485, Human Phenotype Ontology:HP:0005489, Human Phenotype Ontology:HP:0005497, MONDO:MONDO:0001149, MedGen:C4551563|Human Phenotype Ontology:HP:0000164, Human Phenotype Ontology:HP:0001567, Human Phenotype Ontology:HP:0006296, Human Phenotype Ontology:HP:0006348, MedGen:C0262444|Human Phenotype Ontology:HP:0000682, Human Phenotype Ontology:HP:0006322, MedGen:C4021800|Human Phenotype Ontology:HP:0007467, Human Phenotype Ontology:HP:0007496, Human Phenotype Ontology:HP:0008066, Human Phenotype Ontology:HP:0200038, MedGen:C2132198|Human Phenotype Ontology:HP:0001823, Human Phenotype Ontology:HP:0001826, Human Phenotype Ontology:HP:0004325, MedGen:C5574742|Human Phenotype Ontology:HP:0004552, MedGen:C3806301|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|Human Phenotype Ontology:HP:0008382, Human Phenotype Ontology:HP:0008397, Human Phenotype Ontology:HP:0008404, Human Phenotype Ontology:HP:0008408, MedGen:C0221260|Human Phenotype Ontology:HP:0002177, Human Phenotype Ontology:HP:0003457, Human Phenotype Ontology:HP:0003751, Human Phenotype Ontology:HP:0003753, Human Phenotype Ontology:HP:0100286, MedGen:C0476403|Human Phenotype Ontology:HP:0002293, Human Phenotype Ontology:HP:0200115, MedGen:C0574769|Human Phenotype Ontology:HP:0000953, Human Phenotype Ontology:HP:0007527, MONDO:MONDO:0019289, MedGen:C0162834, Orphanet:79375|Human Phenotype Ontology:HP:0100699, MedGen:C0008767|Human Phenotype Ontology:HP:0001509, Human Phenotype Ontology:HP:0003501, Human Phenotype Ontology:HP:0003507, Human Phenotype Ontology:HP:0003512, Human Phenotype Ontology:HP:0003518, Human Phenotype Ontology:HP:0003519, Human Phenotype Ontology:HP:0004322, Human Phenotype Ontology:HP:0008871, Human Phenotype Ontology:HP:0008882, Human Phenotype Ontology:HP:0008888, Human Phenotype Ontology:HP:0008913, MedGen:C0349588|Human Phenotype Ontology:HP:0001508, Human Phenotype Ontology:HP:0001535, Human Phenotype Ontology:HP:0008853, Human Phenotype Ontology:HP:0008878, Human Phenotype Ontology:HP:0008916, MedGen:C2315100 | ClinVar preferred disease name | Inborn genetic diseases|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 2|not provided|Hereditary motor and sensory neuropathy with optic atrophy|Charcot-Marie-Tooth disease type 2A2|Microcephaly|Abnormality of the dentition|Abnormal dental enamel morphology|Abnormal blistering of the skin|Decreased body weight|Scarring alopecia of scalp|Distal muscle weakness|Nail dystrophy|EMG abnormality|Alopecia of scalp|Hyperpigmentation of the skin|Scarring|Short stature|Failure to thrive | HGVS variant names | NC 000001.10:g.12052716C>T | 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:CA204307|OMIM:608507.0009|UniProtKB:O95140#VAR 029876 | Gene symbol:Gene id. | MFN2:9927 | Molecular consequence | SO:0001583|missense variant | Allele origin | | dbSNP ID | 119103263 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV001243528; | Chromosome | 1:12052717..12052719 | ClinVar Allele ID | 952039 | Disease database name and identifier | MONDO:MONDO:0018993, MedGen:C0270914, Orphanet:64746 | ClinVar preferred disease name | Charcot-Marie-Tooth disease type 2 | HGVS variant names | NC 000001.10:g.12052719 12052721del | ClinVar review status | criteria provided, single submitter | Clinical Significance | Uncertain significance | Variant type | Deletion | Sequence Ontology for variant type | SO:0000159 | Gene symbol:Gene id. | MFN2:9927 | Molecular consequence | SO:0001822|inframe deletion | Allele origin | germline | dbSNP ID | 1638740322 | 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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