Variant #0000035990 (NC_000020.10:g.62073810del, KCNQ2(NM_172107.2):c.769del)

Individual ID 00016321
Chromosome 20
Allele Paternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.62073810del
DNA change (hg38) g.63442457del
Published as -
ISCN -
DB-ID KCNQ2_000002
Variant remarks -
Reference PubMed: Della Mina et al 2014
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Lab Zuffardi
Database submission license No license selected
Created by Lab Zuffardi
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KCNQ2 NM_172107.2 +?/? 5 c.769del r.(?) p.(Glu257Argfs*16)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016250 DNA SEQ;SEQ-NG-I - - KCNQ2, MAGI2 2 Lab Zuffardi