Variant #0000727905 (NC_000021.8:g.35821785C>T, KCNE1(NM_000219.4):c.148G>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.35821785C>T
DNA change (hg38) -
Published as KCNE1(NM_001127670.1):c.148G>A (p.V50I)
ISCN -
DB-ID KCNE1_000152
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     
KCNE1 NM_000219.4 ?/. - c.148G>A r.(?) p.(Val50Ile)