Variant #0000679162 (NC_000011.9:g.2683309A>C, KCNQ1(NM_000218.2):c.1512A>C)

Chromosome 11
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.2683309A>C
DNA change (hg38) -
Published as KCNQ1(NM_000218.2):c.1512A>C (p.S504=)
ISCN -
DB-ID KCNQ1_001400
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_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KCNQ1 NM_000218.2 -?/. - c.1512A>C r.(?) p.(Ser504=)
KCNQ1OT1 NR_002728.2 -?/. - n.37920T>G r.(?) -