Variant #0000786897 (NC_000020.10:g.62076073C>G, NM_172107.2:c.629G>C (KCNQ2))

Individual ID 00374352
Chromosome 20
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.62076073C>G
DNA change (hg38) g.63444720C>G
Published as -
ISCN -
DB-ID KCNQ2_000228
Variant remarks -
Reference PubMed: Ganapathy 2019
ClinVar ID ClinVar-RCV000454413.1
dbSNP ID -
Origin Germline
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 2021-05-24 20:06:48 +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 +?/. 4 c.629G>C r.(?) p.(Arg210Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000375546 DNA SEQ-NG - TruSight One panel KCNQ2 1 Johan den Dunnen


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