Variant #0000497797 (NC_000011.9:g.17409520C>G, KCNJ11(NM_000525.3):c.119G>C)

Individual ID 00244515
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.17409520C>G
DNA change (hg38) g.17387973C>G
Published as -
ISCN -
DB-ID KCNJ11_000096
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.119G>C r.(?) p.(Gly40Ala)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000245627 DNA SEQ - - KCNJ11 1 Thomas Laver