View genomic variant #0000015265

Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Type -
DNA change (genomic) (Relative to hg19 / GRCh37) g.12064892G>A
Published as -
GERP -
Segregation -
DB-ID MFN2_000017
MSCV MSCV_0015265
dbSNP ID -
Frequency -
Sources ; clinvar;
Reference -
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) 0.00192 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 0000015265 ./. - - c.1403G>A - r.(?) p.(Arg468His) - - - -
MFN2 00000004 NM_014874.3 0000015265 ./. - - c.1403G>A - r.(?) p.(Arg468His) - - - -
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ClinVar @ MSeqDR

RCVaccession RCV000002372; RCV000196650; RCV000312138; RCV000487518; RCV001172693; RCV001086652; RCV001814957;
Chromosome 1:12064892..12064892
Allele frequencies from ESP 0.00192
Allele frequencies from ExAC 0.00229
Allele frequencies from TGP 0.00200
ClinVar Allele ID 17321
Disease database name and identifier Human Phenotype Ontology:HP:0040083, MedGen:C0427144|MONDO:MONDO:0012231, MedGen:C4721887, OMIM:609260, Orphanet:ORPHA99947|MONDO:MONDO:0015626, MedGen:C0007959, OMIM:PS118220, Orphanet:ORPHA166, SNOMED CT:50548001|MONDO:MONDO:0018993, MedGen:C0270914, Orphanet:ORPHA64746|MONDO:MONDO:0019551, MedGen:C0393807, Orphanet:ORPHA90120, SNOMED CT:128203003|MedGen:CN169374|MedGen:CN517202
ClinVar preferred disease name Toe walking|Charcot-Marie-Tooth disease, type 2A2A|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease, type 2|Hereditary motor and sensory neuropathy with optic atrophy|not specified|not provided
HGVS variant names NC 000001.10:g.12064892G>A
ClinVar review status criteria provided, conflicting interpretations
Clinical Significance Conflicting interpretations of pathogenicity
Conflicting clinical significance Likely pathogenic(1)| Uncertain significance(3)| Benign(2)| Likely benign(4)
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:608507.0015|Illumina Laboratory Services, Illumina:691934|ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories:73356
Gene symbol:Gene id. MFN2:9927
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 138382758
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