View genomic variant #0000015271

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.12071567G>C
Published as -
GERP -
Segregation -
DB-ID MFN2_000023
MSCV MSCV_0015271
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.
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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 0000015271 ./. - - c.2219G>C - r.(?) p.(Trp740Ser) - - - -
MFN2 00000004 NM_014874.3 0000015271 ./. - - c.2219G>C - r.(?) p.(Trp740Ser) - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000197403; RCV000002357; RCV000235811;
Chromosome 1:12071567..12071567
ClinVar Allele ID 17308
Disease database name and identifier MedGen:C0270914, Orphanet:ORPHA64746|MedGen:C1836485, OMIM:609260, Orphanet:ORPHA99947|MedGen:CN517202
ClinVar preferred disease name Charcot-Marie-Tooth disease, type 2|Charcot-Marie-Tooth disease, type 2A2A|not provided
HGVS variant names NC 000001.10:g.12071567G>C
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 OMIM Allelic Variant:608507.0002|UniProtKB (protein):O95140#VAR 018612
Gene symbol:Gene id. MFN2:9927
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 28940292
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
rs2894029211207156712071567G/COMIM phenotype variantsCHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2
rs2894029211207156712071567G/COMIM phenotype variantsCharcot-Marie-Tooth disease type 2A2
rs2894029211207156712071567G/COMIM phenotype variantsCharcot-Marie-Tooth disease 2A2
rs2894029211207156712071567G/COMIM phenotype variantsCharcot-Marie-Tooth disease, type 2A2
CM04139411207156712071567HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available