Variant #0000006622 (NC_000003.11:g.100467320G>A, TFG(NM_006070.5):c.1148G>A)

Individual ID 00006627
Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.100467320G>A
Reference Dallah Yoo, et al. (2022)
DB-ID TFG_000002
Frequency -
Average frequency (gnomAD v.2.1.1) 2.0E-5 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     
TFG NM_006070.5 +/. 8 c.1148G>A r.(1148g>a) p.(Arg383His)



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000006651 ? ? TFG 1 XY Liu