Variant #0000006540 (NC_000001.10:g.12067224C>T, MFN2(NM_014874.3):c.1987C>T)

Individual ID 00006549
Chromosome 1
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.12067224C>T
Reference Orly Goldstein, et al. (2019)
DB-ID MFN2_000026
Frequency -
Average frequency (gnomAD v.2.1.1) 0.00018 View details
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 +?/. 17 c.1987C>T r.(1987c>u) p.(Arg663Cys) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000006572 ? ? MFN2 1 XY Liu