Variant #0000990005 (NC_000011.9:g.128709369C>T, NM_000220.4:c.827G>A (KCNJ1))

Individual ID 00453419
Chromosome 11
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.128709369C>T
DNA change (hg38) g.128839474C>T
Published as -
ISCN -
DB-ID KCNJ1_000039
Variant remarks -
Reference -
ClinVar ID ClinVar-3378410
dbSNP ID -
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 10:16:11 +02:00 (CEST)
Date last edited 2024-12-03 22:13:03 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KCNJ1 NM_000220.4 +?/. 2 c.827G>A r.(?) p.(Ser276Asn)



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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