Variant #0000543662 (NC_000011.9:g.2683178_2683179del, KCNQ1(NM_000218.2):c.1394-13_1394-12del)

Chromosome 11
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.2683178_2683179del
DNA change (hg38) g.2661948_2661949del
Published as KCNQ1(NM_000218.2):c.1394-13_1394-12delAC
ISCN -
DB-ID KCNQ1_001096 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KCNQ1 NM_000218.2 -/. - c.1394-13_1394-12del r.(=) p.(=)
KCNQ1OT1 NR_002728.2 -/. - n.38053_38054del r.(?) -