Variant #0000972258 (NC_000017.10:g.68171610G>A, NM_000891.2:c.430G>A (KCNJ2))

Individual ID 00448693
Chromosome 17
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.68171610G>A
DNA change (hg38) g.70175469G>A
Published as -
ISCN -
DB-ID KCNJ2_000023 See all 3 reported entries
Variant remarks ACMG: PS4_MOD, PM5, PP3_MOD, PS2_SUP, PS3_SUP, PM2_SUP, PP2
Reference PMID: 11371347, 12163457, 12909315, 14522976, 22002906
ClinVar ID VCV000067573.6
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site LanerMGZ
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Date created 2024-04-12 11:32:23 +02:00 (CEST)
Date last edited 2024-09-12 14:34:01 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KCNJ2 NM_000891.2 +?/. 2 c.430G>A r.(?) p.(Gly144Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000450284 DNA SEQ-NG-I Blood - KCNJ2 1 Andreas Laner


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