View genomic variant #0000000010

Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.12052746C>T
Published as -
GERP 2.200
Segregation -
DB-ID MFN2_000003
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


Gene     

AscendingTranscript     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Position     

RNA change     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
MFN2 NM_001127660.1 ?/? - 3/18 c.310C>T - r.(?) p.(Arg104Trp) probably_damaging(0.999) missense_variant,splice_region_variant - deleterious(0)
MFN2 NM_014874.3 ?/? - 3/18 c.310C>T - r.(?) p.(Arg104Trp) probably_damaging(0.999) missense_variant,splice_region_variant - deleterious(0)


ClinVar @ MSeqDR

17320
MedGen:C0007959,Orphanet:ORPHA166,SNOMED CT:50548001|MedGen:C0393807,OMIM:601152,SNOMED CT:128203003|MedGen:C1836485,OMIM:609260,Orphanet:ORPHA99947|MedGen:C4310725,OMIM:617087|MedGen:CN043576|MedGen:CN517202
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
criteria provided, multiple submitters, no conflicts
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:608507.0014
Gene symbol:Gene id. MFN2:9927
SO:0001583|missense variant
33
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