Variant #0000543664 (NC_000011.9:g.2683273A>G, KCNQ1(NM_000218.2):c.1476A>G)

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.2683273A>G
DNA change (hg38) g.2662043A>G
Published as KCNQ1(NM_000218.2):c.1476A>G (p.E492=)
ISCN -
DB-ID KCNQ1_000143 See all 5 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) 6.0E-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.1476A>G r.(?) p.(Glu492=)
KCNQ1OT1 NR_002728.2 -/. - n.37956T>C r.(?) -