Variant #0000763658 (NC_000011.9:g.128709976C>A, NM_000220.4:c.220G>T (KCNJ1))

Individual ID 00361979
Chromosome 11
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.128709976C>A
DNA change (hg38) g.128840081C>A
Published as -
ISCN -
DB-ID KCNJ1_000034
Variant remarks -
Reference PubMed: Brochard 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-04-13 09:47:21 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KCNJ1 NM_000220.4 +/. - c.220G>T r.(?) p.(Asp74Tyr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000363207 DNA SEQ - - KCNJ1 2 Johan den Dunnen


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