Variant #0000005587 (NC_000012.11:g.977989delT, WNK1(NM_001184985.1):c.3097delT)

Individual ID 00005598
Chromosome 12
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.977989delT
Reference Gao LH et al. (2016)
DB-ID WNK1_000001
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_001184985.1 ./. 9 c.3097delT r.(?) p.(Ser1033Leufs*3)



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000005610 ? ? WNK1 1 XY Liu