Variant #0000005588 (NC_000012.11:g.991104_991105insT, WNK1(NM_018979.3):c.3237_3238insT)

Individual ID 00005599
Chromosome 12
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.991104_991105insT
Reference Yuan JH et al. (2017)
DB-ID WNK1_000002
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     
WNK1 NM_018979.3 ./. 14 c.3237_3238insT r.(?) p.(Ser1080*)



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000005611 ? ? WNK1 1 XY Liu