Variant #0000667531 (NC_000020.10:g.62073882C>G, KCNQ2(NM_172107.2):c.693G>C)

Individual ID 00303008
Chromosome 20
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.62073882C>G
DNA change (hg38) g.63442529C>G
Published as -
ISCN -
DB-ID KCNQ2_000210
Variant remarks -
Reference PubMed: Helbig 2016
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.693G>C r.(?) p.(Glu231Asp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000304133 DNA SEQ-NG - WES KCNQ2 1 Johan den Dunnen