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

RCVaccession RCV000002369; RCV000472857; RCV000239892; RCV000624830; RCV000199654;
Chromosome 1:12069698..12069698
Allele frequencies from ESP 0.0004
Allele frequencies from ExAC 0.00033
Allele frequencies from TGP 0.0002
ClinVar Allele ID 17319
Disease database name and identifier MeSH:D030342, MedGen:C0950123|MedGen:C0270914, Orphanet:ORPHA64746|MedGen:C1836485, OMIM:609260, Orphanet:ORPHA99947|MedGen:C4310725, OMIM:617087|MedGen:CN517202
ClinVar preferred disease name Inborn genetic diseases|Charcot-Marie-Tooth disease, type 2|Charcot-Marie-Tooth disease, type 2A2A|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B|not provided
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 OMIM Allelic Variant:608507.0013
Gene symbol:Gene id. MFN2:9927
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 119103267
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

variation_namechromseq_region_startseq_region_endallele_stringminor_alleleminor_allele_freqvariation_setPhenotype_description
rs11910326711206969812069698C/TT0.0005OMIM phenotype variantsCHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2
rs11910326711206969812069698C/TT0.0005OMIM phenotype variantsCharcot-Marie-Tooth disease, type 2A2
CM08169511206969812069698HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available