Variant #0000005594 (NC_000001.10:g.12062090C>T, MFN2(NM_014874.3):c.1090C>T)

Individual ID 00005607
Chromosome 1
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.12062090C>T
Reference Gowrisankaran S et al. (2011)
DB-ID MFN2_000020 See all 2 reported entries
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner XY Liu
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by XY Liu
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
MFN2 NM_014874.3 ./. 11 c.1090C>T r.(?) p.(Arg364Trp) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000005619 ? ? MFN2 1 XY Liu