Variant #0000188369 (NC_000020.10:g.62076612G>A, NM_172107.2:c.493C>T (KCNQ2))

Individual ID 00117056
Chromosome 20
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.62076612G>A
DNA change (hg38) g.63445259G>A
Published as -
ISCN -
DB-ID KCNQ2_000069
Variant remarks -
Reference PubMed: Bobbili 2018, Journal: Bobbili 2018
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/567 controls
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Dheeraj Bobbili
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2017-08-03 15:16:01 +02:00 (CEST)
Date last edited 2022-10-12 13:05:54 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KCNQ2 NM_172107.2 ./. - c.493C>T r.(?) p.(Arg165Trp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000117491 DNA SEQ-NG - - - 2 Dheeraj Bobbili


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