Variant #0000063183 (NC_000020.10:g.62070966G>A, KCNQ2(NM_172107.2):c.912C>T)

Individual ID 00035988
Chromosome 20
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.62070966G>A
DNA change (hg38) g.63439613G>A
Published as -
ISCN -
DB-ID KCNQ2_000010 See all 3 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs2297385
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.11907 View details
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KCNQ2 NM_172107.2 -/. - c.912C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000036058 DNA SEQ - - KCNQ2 1 Andreas Laner