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

2 entries on 1 page. Showing entries 1 - 2.
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Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Position     

RNA change     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
MFN2 00000005 NM_001127660.1 0000000009 ?/? - 4/4 c.280C>T - r.(?) p.(Arg94Trp) probably_damaging(0.995) missense_variant - deleterious(0)
MFN2 00000004 NM_014874.3 0000000009 ?/? - 4/4 c.280C>T - r.(?) p.(Arg94Trp) probably_damaging(0.995) missense_variant - deleterious(0)
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000789702; RCV001091326; RCV001206471;
Chromosome 1:12052716..12052716
ClinVar Allele ID 624894
Disease database name and identifier MONDO:MONDO:0015626, MedGen:C0007959, OMIM:PS118220, Orphanet:ORPHA166, SNOMED CT:50548001|MONDO:MONDO:0018993, MedGen:C0270914, Orphanet:ORPHA64746|MedGen:CN517202
ClinVar preferred disease name Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease, type 2|not provided
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;
Chromosome 1:12052716..12052716
ClinVar Allele ID 17315
Disease database name and identifier 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: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:0000682, Human Phenotype Ontology:HP:0006322, MedGen:C4021800|Human Phenotype Ontology:HP:0000953, Human Phenotype Ontology:HP:0007527, MONDO:MONDO:0019289, MedGen:C0162834, Orphanet:ORPHA79375|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, SNOMED CT:432788009|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:0001823, Human Phenotype Ontology:HP:0001826, Human Phenotype Ontology:HP:0004325, MedGen:C1844806|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: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:0004552, MedGen:C3806301|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:0008382, Human Phenotype Ontology:HP:0008397, Human Phenotype Ontology:HP:0008404, Human Phenotype Ontology:HP:0008408, MedGen:C0221260|Human Phenotype Ontology:HP:0100699, MedGen:C0008767|MONDO:MONDO:0012231, MedGen:C4721887, OMIM:609260, Orphanet:ORPHA99947|MONDO:MONDO:0015626, MedGen:C0007959, OMIM:PS118220, Orphanet:ORPHA166, SNOMED CT:50548001|MONDO:MONDO:0018993, MedGen:C0270914, Orphanet:ORPHA64746|MONDO:MONDO:0019551, MedGen:C0393807, Orphanet:ORPHA90120, SNOMED CT:128203003|MedGen:CN517202
ClinVar preferred disease name Abnormality of the dentition|Microcephaly|Abnormal dental enamel morphology|Hyperpigmentation of the skin|Failure to thrive|Short stature|Decreased body weight|EMG abnormality|Alopecia of scalp|Distal muscle weakness|Scarring alopecia of scalp|Abnormal blistering of the skin|Nail dystrophy|Scarring|Charcot-Marie-Tooth disease, type 2A2A|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease, type 2|Hereditary motor and sensory neuropathy with optic atrophy|not provided
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 ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories:190777|UniProtKB (protein):O95140#VAR 029876|OMIM Allelic Variant:608507.0009
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:ORPHA64746
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
Variant clinical sources reported Invitae:8065776
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