View genomic variant #0000015249

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.12058934C>T
Published as -
GERP -
Segregation -
DB-ID MFN2_000028
MSCV MSCV_0015249
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 0000015249 ./. - - c.707C>T - r.(?) p.(Thr236Met) - - - -
MFN2 00000004 NM_014874.3 0000015249 ./. - - c.707C>T - r.(?) p.(Thr236Met) - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000470638; RCV000201150; RCV000414991; RCV000414991; RCV000414991;
Chromosome 1:12058934..12058934
Allele frequencies from ExAC 0.00001
ClinVar Allele ID 213789
Disease database name and identifier Human Phenotype Ontology:HP:0002460, MedGen:C1864696|Human Phenotype Ontology:HP:0003477, MedGen:C1263857|Human Phenotype Ontology:HP:0008944, MedGen:C1836451|MedGen:C0270914, Orphanet:ORPHA64746|MedGen:C1836485, OMIM:609260, Orphanet:ORPHA99947
ClinVar preferred disease name Distal muscle weakness|Peripheral axonal neuropathy|Distal lower limb amyotrophy|Charcot-Marie-Tooth disease, type 2|Charcot-Marie-Tooth disease, type 2A2A
HGVS variant names NC 000001.10:g.12058934C>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 Centre for Mendelian Genomics, University Medical Centre Ljubljana:CMGVARID00618
Gene symbol:Gene id. MFN2:9927
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 773159585
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
CM05006911205893412058934HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available