View genomic variant #0000000010

Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.12052746C>T
Published as -
GERP 2.200
Segregation -
DB-ID MFN2_000003 See all 2 reported entries
MSCV MSCV_0000010
dbSNP ID rs119103268
Frequency -
Sources ;
Reference 18425620;18946002;25025039;21840889;21531138
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 0000000010 ?/? - 3/18 c.310C>T - r.(?) p.(Arg104Trp) probably_damaging(0.999) missense_variant,splice_region_variant - deleterious(0)
MFN2 00000004 NM_014874.3 0000000010 ?/? - 3/18 c.310C>T - r.(?) p.(Arg104Trp) probably_damaging(0.999) missense_variant,splice_region_variant - deleterious(0)
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ClinVar @ MSeqDR

RCVaccession RCV000144872; RCV000515385; RCV000556047; RCV000002371; RCV000515385; RCV000002370; RCV000515385; RCV000197230;
Chromosome 1:12052746..12052746
ClinVar Allele ID 17320
Disease database name and identifier MedGen:C0007959, Orphanet:ORPHA166, SNOMED CT:50548001|MedGen:C0393807, OMIM:601152, Orphanet:ORPHA90120, SNOMED CT:128203003|MedGen:C1836485, OMIM:609260, Orphanet:ORPHA99947|MedGen:C4310725, OMIM:617087|MedGen:CN043576|MedGen:CN517202
ClinVar preferred disease name Charcot-Marie-Tooth disease|Hereditary motor and sensory neuropathy with optic atrophy|Charcot-Marie-Tooth disease, type 2A2A|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B|Charcot-Marie-Tooth disease, type 2|not provided
HGVS variant names NC 000001.10:g.12052746C>T
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:608507.0014
Gene symbol:Gene id. MFN2:9927
Molecular consequence SO:0001583|missense variant
Allele origin
dbSNP ID 119103268
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
rs11910326811205274612052746C/TOMIM phenotype variantsHEREDITARY MOTOR AND SENSORY NEUROPATHY VI
rs11910326811205274612052746C/TOMIM phenotype variantsHereditary motor and sensory neuropathy with optic atrophy
rs11910326811205274612052746C/TOMIM phenotype variantsCharcot-Marie-Tooth disease, type 2A2
CM08354311205274612052746HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available