Variant #0000731530 (NC_000011.9:g.2720964_2721095del, KCNQ1(NM_000218.2):c.1514+37653_1514+37784del)

Individual ID 00332518
Chromosome 11
Allele Paternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (paternal)
DNA change (genomic) (Relative to hg19 / GRCh37) g.2720964_2721095del
DNA change (hg38) g.2699734_2699865del
Published as -
ISCN -
DB-ID KCNQ1OT1_000005
Variant remarks father unaffected (hypomethylation maternal allele)
Reference PubMed: Eggermann 2021
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation hypermethylation
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KCNQ1 NM_000218.2 +?/. - c.1514+37653_1514+37784del r.0? p.0?
KCNQ1OT1 NR_002728.2 +?/. - n.134_265del r.(?) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000333742 DNA MLPA-ms;SEQ - - KCNQ1OT1 1 Johan den Dunnen