View genomic variant #0000000011

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.12058844C>T
Published as -
GERP 5.200
Segregation -
DB-ID MFN2_000004 See all 2 reported entries
MSCV MSCV_0000011
dbSNP ID rs119103266
Frequency -
Sources ;
Reference 16437557
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 0000000011 ?/? - 6/18 c.617C>T - r.(?) p.(Thr206Ile) benign(0.302) missense_variant - deleterious(0)
MFN2 00000004 NM_014874.3 0000000011 ?/? - 6/18 c.617C>T - r.(?) p.(Thr206Ile) benign(0.302) missense_variant - deleterious(0)
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ClinVar @ MSeqDR

RCVaccession RCV000002368;
Chromosome 1:12058844..12058844
ClinVar Allele ID 17318
Disease database name and identifier MedGen:C0393807, OMIM:601152, Orphanet:ORPHA90120, SNOMED CT:128203003
ClinVar preferred disease name Hereditary motor and sensory neuropathy with optic atrophy
HGVS variant names NC 000001.10:g.12058844C>T
ClinVar review status no assertion criteria provided
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:608507.0012|UniProtKB (protein):O95140#VAR 029877
Gene symbol:Gene id. MFN2:9927
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 119103266
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
rs11910326611205884412058844C/TOMIM phenotype variantsHEREDITARY MOTOR AND SENSORY NEUROPATHY VI
rs11910326611205884412058844C/TOMIM phenotype variantsHereditary motor and sensory neuropathy with optic atrophy
CM06033811205884412058844HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available