Variant #0000763574 (NC_000020.10:g.62078171A>C, KCNQ2(NM_172107.2):c.316T>G)

Individual ID 00361907
Chromosome 20
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.62078171A>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID KCNQ2_000222
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Anju Shukla
Database submission license No license selected
Created by Anju Shukla
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KCNQ2 NM_172107.2 +/. - c.316T>G r.(?) p.(Cys106Gly)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000363135 DNA SEQ-NG - - - 1 Anju Shukla