View genomic variant #0000015270

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.12069698C>T
Published as -
Segregation -
DB-ID MFN2_000022
MSCV MSCV_0015270
dbSNP ID -
Frequency -
Sources ; clinvar;
Reference -
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) 0.00038 View details
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 0000015270 ./. - - c.2119C>T - r.(?) p.(Arg707Trp) - - - -
MFN2 00000004 NM_014874.3 0000015270 ./. - - c.2119C>T - r.(?) p.(Arg707Trp) - - - -

ClinVar @ MSeqDR

RCVaccession RCV000002369; RCV000199654; RCV000239892; RCV000472857; RCV000624830; RCV000778183; RCV001173687; RCV001775061; RCV002285136; RCV002247240; RCV002476912; RCV002508915; RCV003231070; RCV003319157; RCV003415627;
Chromosome 1:12069698..12069698
Allele frequencies from ExAC 0.00033
Allele frequencies from TGP 0.00020
ClinVar Allele ID 17319
Disease database name and identifier MONDO:MONDO:0011002, MedGen:CN305336, OMIM:601152|MONDO:MONDO:0014906, MedGen:C4310725, OMIM:617087|MONDO:MONDO:0012231, MedGen:C4721887, OMIM:609260, Orphanet:99947|.|MeSH:D030342, MedGen:C0950123|MONDO:MONDO:0019551, MedGen:C0393807, Orphanet:90120|MedGen:C2079538|.|MONDO:MONDO:0007908, MedGen:C0023804, OMIM:151800, Orphanet:2398|MONDO:MONDO:0015626, MedGen:C0007959, OMIM:PS118220, Orphanet:166|MONDO:MONDO:0018993, MedGen:C0270914, Orphanet:64746|MedGen:C3661900|Human Phenotype Ontology:HP:0002394, Human Phenotype Ontology:HP:0030051, Human Phenotype Ontology:HP:0040083, MedGen:C0427144|Human Phenotype Ontology:HP:0003477, Human Phenotype Ontology:HP:0006814, Human Phenotype Ontology:HP:0006842, Human Phenotype Ontology:HP:0007169, Human Phenotype Ontology:HP:0008304, MONDO:MONDO:0004183, MedGen:C1263857
ClinVar preferred disease name Neuropathy, hereditary motor and sensory, type 6A|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b%3B|Charcot-Marie-Tooth disease type 2A2|MFN2-Related Disorders|Inborn genetic diseases|Hereditary motor and sensory neuropathy with optic atrophy|Charcot-Marie-Tooth disease, type 2A|MFN2-related condition|Multiple symmetric lipomatosis|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 2|not provided|Tip-toe gait|Peripheral axonal neuropathy
HGVS variant names NC 000001.10:g.12069698C>T
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Pathogenic/Likely pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported ClinGen:CA252166|OMIM:608507.0013
Gene symbol:Gene id. MFN2:9927
Molecular consequence SO:0001583|missense variant
Allele origin
dbSNP ID 119103267
Variant Flags

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:


Ensembl Variant Phenotype Information: