Variant #0000000041 (NC_000002.11:g.182423344G>A, CERKL(NM_001160277.1):c.715C>T)

Individual ID 00000056
Chromosome 2
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.182423344G>A
Reference -
DB-ID CERKL_000001 See all 2 reported entries
Average frequency (gnomAD v.2.1.1) Retrieve
Owner variome.ir
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by variome.ir
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Classification     
CERKL NM_001160277.1 +/+ - c.715C>T r.(?) p.(Arg239*) Pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000056 DNA SEQ-NG CERKL 1 variome.ir