Variant #0000613298 (NC_000011.9:g.2683252C>T, KCNQ1(NM_000218.2):c.1455C>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.2683252C>T
DNA change (hg38) g.2662022C>T
Published as KCNQ1(NM_000218.2):c.1455C>T (p.F485=)
ISCN -
DB-ID KCNQ1OT1_000003 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) 0.00515 View details
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KCNQ1 NM_000218.2 -/. - c.1455C>T r.(?) p.(Phe485=)
KCNQ1OT1 NR_002728.2 -/. - n.37977G>A r.(?) -