Variant #0000001837 (NC_000001.10:g.12052717G>A, MFN2(NM_014874.3):c.281G>A)

Individual ID 00001837
Chromosome 1
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.12052717G>A
Reference Saito M1, Hayashi Y, Suzuki T, Tanaka H, Hozumi I, Tsuji S.(1997)
DB-ID MFN2_000008
Frequency -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
MFN2 NM_014874.3 ./. 4 c.281G>A r.(?) p.(Arg94Gln) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001837 ? ? MFN2 1 Y Yang