View genomic variant #0000000009

Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.12052716C>T
Published as -
GERP 3.570
Segregation -
DB-ID MFN2_000005
dbSNP ID rs119103263
Frequency -
Sources ;
Reference 16835246;16437557;15064763
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Position     

RNA change     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
MFN2 NM_001127660.1 ?/? - 4/4 c.280C>T - r.(?) p.(Arg94Trp) probably_damaging(0.995) missense_variant - deleterious(0)
MFN2 NM_014874.3 ?/? - 4/4 c.280C>T - r.(?) p.(Arg94Trp) probably_damaging(0.995) missense_variant - deleterious(0)


ClinVar @ MSeqDR

17315
Human Phenotype Ontology:HP:0000164,MedGen:C0262444|Human Phenotype Ontology:HP:0000252,MedGen:C0424688|Human Phenotype Ontology:HP:0000682,MedGen:C4021800|Human Phenotype Ontology:HP:0000953,MedGen:C0162834|Human Phenotype Ontology:HP:0001508,MedGen:C0231246|Human Phenotype Ontology:HP:0002293,MedGen:C1860137|Human Phenotype Ontology:HP:0002460,MedGen:C1864696|Human Phenotype Ontology:HP:0003457,MedGen:C0476403|Human Phenotype Ontology:HP:0004322,MedGen:C0349588|Human Phenotype Ontology:HP:0004325,MedGen:CN003826|Human Phenotype Ontology:HP:0004552,MedGen:C3806301|Human Phenotype Ontology:HP:0008066,MedGen:C0241054|Human Phenotype Ontology:HP:0008404,MedGen:C0221260|Human Phenotype Ontology:HP:0100699,MedGen:C0008767|MedGen:C0393807,OMIM:601152,SNOMED CT:128203003|MedGen:C1836485,OMIM:609260,Orphanet:ORPHA99947|MedGen:CN043576|MedGen:CN517202
Abnormality of the teeth|Microcephaly|Abnormality of dental enamel|Hyperpigmentation of the skin|Failure to thrive|Alopecia of scalp|Distal muscle weakness|EMG abnormality|Short stature|Decreased body weight|Scarring alopecia of scalp|Abnormal blistering of the skin|Nail dystrophy|Scarring|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.12052716C>T
criteria provided, multiple submitters, no conflicts
Clinical Significance
single nucleotide variant
SO:0001483
Centre for Mendelian Genomics,University Medical Centre Ljubljana:CMGVARID00460,OMIM Allelic Variant:608507.0009,UniProtKB (protein):O95140#VAR 029876
Gene symbol:Gene id. MFN2:9927
SO:0001583|missense variant
1
dbSNP ID 119103263
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
rs11910326311205271612052716C/TOMIM phenotype variantsCHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2
rs11910326311205271612052716C/TOMIM phenotype variantsCharcot-Marie-Tooth disease, type 2A2
rs11910326311205271612052716C/TOMIM phenotype variantsHereditary motor and sensory neuropathy with optic atrophy
CM06034211205271612052716HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available