View genomic variant #0000015239

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.12052663T>C
Published as -
GERP -
Segregation -
DB-ID MFN2_000038
MSCV MSCV_0015239
dbSNP ID -
Frequency -
Sources ; clinvar;
Reference -
Variant remarks -
Genetic origin -
Variant_disease -
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 0000015239 ./. - - c.227T>C - r.(?) p.(Leu76Pro) - - - -
MFN2 00000004 NM_014874.3 0000015239 ./. - - c.227T>C - r.(?) p.(Leu76Pro) - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000002358; RCV000200837; RCV000653847;
Chromosome 1:12052663..12052663
ClinVar Allele ID 17309
Disease database name and identifier MONDO:MONDO:0012231, MedGen:C4721887, OMIM:609260, Orphanet:ORPHA99947|MONDO:MONDO:0018993, MedGen:C0270914, Orphanet:ORPHA64746|MedGen:CN517202
ClinVar preferred disease name Charcot-Marie-Tooth disease, type 2A2A|Charcot-Marie-Tooth disease, type 2|not provided
HGVS variant names NC 000001.10:g.12052663T>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:608507.0003|UniProtKB (protein):O95140#VAR 018608
Gene symbol:Gene id. MFN2:9927
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 28940293
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000658491; RCV001855377;
Chromosome 1:12052663..12052663
Allele frequencies from ExAC 0.00002
ClinVar Allele ID 537076
Disease database name and identifier MONDO:MONDO:0018993, MedGen:C0270914, Orphanet:ORPHA64746|MedGen:CN517202
ClinVar preferred disease name Charcot-Marie-Tooth disease, type 2|not provided
HGVS variant names NC 000001.10:g.12052663T>G
ClinVar review status criteria provided, multiple submitters, no conflicts
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 28940293
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

None