Variant #0000084788 (NC_000020.10:g.62076717C>T, NM_172107.2:c.388G>A (KCNQ2))

Individual ID 00054827
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.62076717C>T
DNA change (hg38) g.63445364C>T
Published as -
ISCN -
DB-ID KCNQ2_000057
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner NeuroMeGen
Database submission license No license selected
Created by NeuroMeGen
Date created 2015-11-26 05:20:06 +01:00 (CET)
Date last edited 2015-11-26 05:20:06 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KCNQ2 NM_172107.2 +?/. 3 c.388G>A r.(?) p.(Glu130Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000054776 DNA SEQ-NG-I - - KCNQ2 1 NeuroMeGen


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