Variant #0000278410 (NC_000011.9:g.2683318G>T, KCNQ1(NM_000218.2):c.1514+7G>T)

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.2683318G>T
DNA change (hg38) g.2662088G>T
Published as KCNQ1(NM_000218.2):c.1514+7G>T, KCNQ1OT1(NR_002728.3):n.37911C>A
ISCN -
DB-ID KCNQ1_000975 See all 4 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 8.0E-5 View details
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KCNQ1 NM_000218.2 -/. - c.1514+7G>T r.(=) p.(=)
KCNQ1OT1 NR_002728.2 -/. - n.37911C>A r.(?) -