Variant #0000570613 (NC_000021.8:g.35821849C>T, KCNE1(NM_000219.4):c.84G>A)

Chromosome 21
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.35821849C>T
DNA change (hg38) g.34449551C>T
Published as KCNE1(NM_000219.3):c.84G>A (p.S28=), KCNE1B(NM_001330065.1):c.93G>A (p.S31=)
ISCN -
DB-ID KCNE1_000083 See all 4 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) 0.00357 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KCNE1 NM_000219.4 -?/. - c.84G>A r.(?) p.(Ser28=)