View genomic variant #0000000013

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.12062090C>T
Published as -
GERP 4.700
Segregation -
DB-ID MFN2_000002 See all 2 reported entries
MSCV MSCV_0000013
dbSNP ID rs119103265
Frequency -
Sources ;
Reference 16437557;16835246
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 0000000013 ?/? - 10/18 c.1090C>T - r.(?) p.(Arg364Trp) probably_damaging(0.996) missense_variant - deleterious(0)
MFN2 00000004 NM_014874.3 0000000013 ?/? - 10/18 c.1090C>T - r.(?) p.(Arg364Trp) probably_damaging(0.996) missense_variant - deleterious(0)
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ClinVar @ MSeqDR

RCVaccession RCV000195560; RCV000023711; RCV000002367; RCV000198024;
Chromosome 1:12062090..12062090
ClinVar Allele ID 17317
Disease database name and identifier MedGen:C0393807, OMIM:601152, Orphanet:ORPHA90120, SNOMED CT:128203003|MedGen:C1836485, OMIM:609260, Orphanet:ORPHA99947|MedGen:CN043576|MedGen:CN517202
ClinVar preferred disease name Hereditary motor and sensory neuropathy with optic atrophy|Charcot-Marie-Tooth disease, type 2A2A|Charcot-Marie-Tooth disease, type 2|not provided
HGVS variant names NC 000001.10:g.12062090C>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:608507.0011|UniProtKB (protein):O95140#VAR 029880
Gene symbol:Gene id. MFN2:9927
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 119103265
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
rs11910326511206209012062090C/TOMIM phenotype variantsHEREDITARY MOTOR AND SENSORY NEUROPATHY VI
rs11910326511206209012062090C/TOMIM phenotype variantsHereditary motor and sensory neuropathy with optic atrophy
rs11910326511206209012062090C/TOMIM phenotype variantsCharcot-Marie-Tooth disease, type 2A2
CM06034011206209012062090HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available