Variant #0000922450 (NC_000020.10:g.62076068C>A, NM_172107.2:c.634G>T (KCNQ2))

Individual ID 00434638
Chromosome 20
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.62076068C>A
DNA change (hg38) g.63444715C>A
Published as -
ISCN -
DB-ID KCNQ2_000255
Variant remarks -
Reference PubMed: Deshwar 2023
ClinVar ID -
dbSNP ID -
Origin De novo
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 2023-04-04 16:04:05 +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     
KCNQ2 NM_172107.2 +/. - c.634G>T r.634g>u p.Asp212Tyr



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000436109 DNA;RNA RT-PCR;SEQ;SEQ-NG - - - 1 Johan den Dunnen


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