Variant #0000005882 (NC_000020.10:g.2398069G>C, TGM6(NM_198994.2):c.1528G>C)

Individual ID 00005896
Chromosome 20
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.2398069G>C
Reference Guo YC et al. (2014)
DB-ID TGM6_000001 See all 2 reported entries
Frequency -
Average frequency (gnomAD v.2.1.1) 0.00013 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     
TGM6 NM_198994.2 ./. 10 c.1528G>C r.(?) p.(Asp510His)



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000005913 ? ? TGM6 1 XY Liu