Variant #0000570607 (NC_000021.8:g.35821794C>T, KCNE1(NM_000219.4):c.139G>A)

Chromosome 21
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.35821794C>T
DNA change (hg38) g.34449496C>T
Published as KCNE1(NM_001127670.1):c.139G>A (p.V47I)
ISCN -
DB-ID KCNE1_000091
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) 0.00027 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KCNE1 NM_000219.4 ?/. - c.139G>A r.(?) p.(Val47Ile)