Variant #0000667696 (NC_000020.10:g.62076115G>A, KCNQ2(NM_172107.2):c.587C>T)

Individual ID 00303143
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.62076115G>A
DNA change (hg38) g.63444762G>A
Published as NM_004518.4:c.587G>A (Ala196Val)
ISCN -
DB-ID KCNQ2_000038 See all 4 reported entries
Variant remarks -
Reference PubMed: Carvill 2013
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KCNQ2 NM_172107.2 +/. - c.587C>T r.(?) p.(Ala196Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000304268 DNA MIP;SEQ;SEQ-NG - 65-gene panel KCNQ2 1 Johan den Dunnen