Variant #0000063180 (NC_000020.10:g.62103460G>C, NC_000020.10(NM_172107.2):c.296+61C>G (KCNQ2))

Individual ID 00035985
Chromosome 20
Allele Parent #1
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.62103460G>C
DNA change (hg38) g.63472107G>C
Published as -
ISCN -
DB-ID KCNQ2_000020
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2015-04-02 13:01:39 +02:00 (CEST)
Date last edited 2016-11-12 11:03:31 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KCNQ2 NM_172107.2 ?/. - c.296+61C>G r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000036055 DNA SEQ - - KCNQ2 1 Andreas Laner


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