View genomic variant #0000015240

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.12052716C>T
Published as -
Segregation -
DB-ID MFN2_000005 See all 2 reported entries
MSCV MSCV_0000009
dbSNP ID -
Frequency -
Sources ; clinvar;
Reference -
Variant remarks -
Genetic origin -
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.


Transcript ID     


Variant ID     

Affects function     



DNA change (cDNA)     


RNA change     



GVS function     

Splice distance     

MFN2 00000005 NM_001127660.1 0000015240 ./. - - c.280C>T - r.(?) p.(Arg94Trp) - - - -
MFN2 00000004 NM_014874.3 0000015240 ./. - - c.280C>T - r.(?) p.(Arg94Trp) - - - -

ClinVar @ MSeqDR

RCVaccession RCV000415132; RCV000415132; RCV000415132; RCV000415132; RCV000199279; RCV000002364; RCV000415132; RCV000415132; RCV000415132; RCV000415132; RCV000190245; RCV000415132; RCV000415132; RCV000415132; RCV000415132; RCV000415132; RCV000415132; RCV000200468;
Chromosome 1:12052716..12052716
ClinVar Allele ID 17315
Disease database name and identifier Human Phenotype Ontology:HP:0000164, MedGen:C0262444|Human Phenotype Ontology:HP:0000252, MedGen:C0424688|Human Phenotype Ontology:HP:0000682, MedGen:C4021800|Human Phenotype Ontology:HP:0000953, MedGen:C0162834, Orphanet:ORPHA79375|Human Phenotype Ontology:HP:0001508, MedGen:C0231246|Human Phenotype Ontology:HP:0002293, MedGen:C1860137|Human Phenotype Ontology:HP:0002460, MedGen:C1864696|Human Phenotype Ontology:HP:0003457, MedGen:C0476403|Human Phenotype Ontology:HP:0004322, MedGen:C0349588|Human Phenotype Ontology:HP:0004325, MedGen:C1844806|Human Phenotype Ontology:HP:0004552, MedGen:C3806301|Human Phenotype Ontology:HP:0008066, MedGen:C0241054|Human Phenotype Ontology:HP:0008404, MedGen:C0221260|Human Phenotype Ontology:HP:0100699, MedGen:C0008767|MedGen:C0270914, Orphanet:ORPHA64746|MedGen:C0393807, OMIM:601152, Orphanet:ORPHA90120, SNOMED CT:128203003|MedGen:C1836485, OMIM:609260, Orphanet:ORPHA99947|MedGen:CN517202
ClinVar preferred disease name Abnormality of the dentition|Microcephaly|Abnormality of dental enamel|Hyperpigmentation of the skin|Failure to thrive|Alopecia of scalp|Distal muscle weakness|EMG abnormality|Short stature|Decreased body weight|Scarring alopecia of scalp|Abnormal blistering of the skin|Nail dystrophy|Scarring|Charcot-Marie-Tooth disease, type 2|Hereditary motor and sensory neuropathy with optic atrophy|Charcot-Marie-Tooth disease, type 2A2A|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 Centre for Mendelian Genomics, University Medical Centre Ljubljana:CMGVARID00460|OMIM Allelic Variant:608507.0009|UniProtKB (protein):O95140#VAR 029876
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

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:


Ensembl Variant Phenotype Information:

rs11910326311205271612052716C/TOMIM phenotype variantsCHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2
rs11910326311205271612052716C/TOMIM phenotype variantsCharcot-Marie-Tooth disease, type 2A2
rs11910326311205271612052716C/TOMIM phenotype variantsHereditary motor and sensory neuropathy with optic atrophy
CM06034211205271612052716HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available