Variant #0000005887 (NC_000018.9:g.12337450A>T, AFG3L2(NM_006796.2):c.2065T>A)

Individual ID 00005901
Chromosome 18
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.12337450A>T
Reference Zühlke C et al. (2015)
DB-ID AFG3L2_000004
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     
AFG3L2 NM_006796.2 ./. 16 c.2065T>A r.(?) p.(Tyr689Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000005918 ? ? AFG3L2 1 XY Liu