Variant #0000497795 (NC_000011.9:g.17409560G>A, KCNJ11(NM_000525.3):c.79C>T)

Individual ID 00244513
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.17409560G>A
DNA change (hg38) g.17388013G>A
Published as -
ISCN -
DB-ID KCNJ11_000098
Variant remarks -
Reference De Franco et al 2019, submitted
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Thomas Laver
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KCNJ11 NM_000525.3 +/. 1 c.79C>T r.(?) p.(Arg27Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000245625 DNA SEQ - - KCNJ11 1 Thomas Laver