Variant #0000543665 (NC_000011.9:g.2683305T>C, KCNQ1(NM_000218.2):c.1508T>C)

Chromosome 11
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.2683305T>C
DNA change (hg38) g.2662075T>C
Published as KCNQ1(NM_000218.2):c.1508T>C (p.I503T)
ISCN -
DB-ID KCNQ1_001100
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.1508T>C r.(?) p.(Ile503Thr)
KCNQ1OT1 NR_002728.2 ?/. - n.37924A>G r.(?) -