Variant #0000990004 (NC_000011.9:g.128709141dup, NM_000220.4:c.1058dup (KCNJ1))

Individual ID 00453419
Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.128709141dup
DNA change (hg38) g.128839246dup
Published as -
ISCN -
DB-ID KCNJ1_000017 See all 3 reported entries
Variant remarks -
Reference -
ClinVar ID ClinVar-586075
dbSNP ID rs768286324
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Marketa Wayhelova
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Marketa Wayhelova
Date created 2024-08-25 10:14:12 +02:00 (CEST)
Date last edited 2024-09-25 19:47:40 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KCNJ1 NM_000220.4 +/. 2 c.1058dup r.(?) p.(His354Serfs*8)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000455030 DNA SEQ-NG-I peripheral blood CES - 2 Marketa Wayhelova


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