Variant #0000002818 (NC_000011.10:g.5723A>G, NM_000525.4:c.155A>G (KCNJ11))

Individual ID 00000656
Chromosome 11
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.5723A>G
Published as -
Reference Muhd Alwi Muhd Helmi et al.(2020)
DB-ID KCNJ11_000001
dbSNP ID rs193929337
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Date created 2021-05-27 15:45:40 +08:00 (CST)
Date last edited 2021-08-01 12:59:24 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
KCNJ11 NM_000525.4 +?/. 1 c.155A>G Q52R r.(?) p.(Gln52Arg) Pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000723 DNA SEQ KCNJ11 1 Nur Aisyah Athirah