View genomic variant #0000015259

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.12062085C>T
Published as -
GERP -
Segregation -
DB-ID MFN2_000012
MSCV MSCV_0015259
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.
Legend  

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 0000015259 ./. - - c.1085C>T - r.(?) p.(Thr362Met) - - - -
MFN2 00000004 NM_014874.3 0000015259 ./. - - c.1085C>T - r.(?) p.(Thr362Met) - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000458626;
Chromosome 1:12062085..12062085
ClinVar Allele ID 390819
Disease database name and identifier MedGen:C0270914, Orphanet:ORPHA64746
ClinVar preferred disease name Charcot-Marie-Tooth disease, type 2
HGVS variant names NC 000001.10:g.12062085C>G
ClinVar review status criteria provided, single submitter
Clinical Significance Uncertain significance
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 387906991
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000240513; RCV000023716;
Chromosome 1:12062085..12062085
Allele frequencies from ExAC 0.00002
ClinVar Allele ID 39695
Disease database name and identifier MedGen:C1836485, OMIM:609260, Orphanet:ORPHA99947|MedGen:C4310725, OMIM:617087
ClinVar preferred disease name Charcot-Marie-Tooth disease, type 2A2A|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B
HGVS variant names NC 000001.10:g.12062085C>T
ClinVar review status criteria provided, single submitter
Clinical Significance Likely pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:608507.0019|UniProtKB (protein):O95140#VAR 076897
Gene symbol:Gene id. MFN2:9927
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 387906991
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
CM06285611206208512062085HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available