Variant #0000497805 (NC_000011.9:g.17409283dup, KCNJ11(NM_000525.3):c.356dup)

Individual ID 00244523
Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.17409283dup
DNA change (hg38) g.17387736dup
Published as -
ISCN -
DB-ID KCNJ11_000076
Variant remarks -
Reference De Franco et al 2019, submitted
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Thomas Laver
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KCNJ11 NM_000525.3 +/. 1 c.356dup r.(?) p.(Ala120Cysfs*7)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000245635 DNA SEQ - - KCNJ11 1 Thomas Laver