Variant #0000788907 (NC_000020.10:g.62073865T>C, KCNQ2(NM_172107.2):c.710A>G)

Individual ID 00375655
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.62073865T>C
DNA change (hg38) g.63442512T>C
Published as -
ISCN -
DB-ID KCNQ2_000209 See all 2 reported entries
Variant remarks -
Reference PubMed: Srivastava 2014
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KCNQ2 NM_172107.2 +?/. - c.710A>G r.(?) p.(Tyr237Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000376852 DNA SEQ-NG - WES - 1 Johan den Dunnen