Variant #0000084785 (NC_000020.10:g.62076101G>A, KCNQ2(NM_172107.2):c.601C>T)

Individual ID 00054824
Chromosome 20
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.62076101G>A
DNA change (hg38) g.63444748G>A
Published as -
ISCN -
DB-ID KCNQ2_000056 See all 2 reported entries
Variant remarks -
Reference -
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 NeuroMeGen
Database submission license No license selected
Created by NeuroMeGen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KCNQ2 NM_172107.2 +/. 4 c.601C>T r.(?) p.(Arg201Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000054773 DNA SEQ-NG-I - - KCNQ2 1 NeuroMeGen