Variant #0000727904 (NC_000021.8:g.35821707C>T, KCNE1(NM_000219.4):c.226G>A)

Chromosome 21
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.35821707C>T
DNA change (hg38) -
Published as KCNE1(NM_000219.3):c.226G>A (p.D76N)
ISCN -
DB-ID KCNE1_000079 See all 3 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) 7.0E-5 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.226G>A r.(?) p.(Asp76Asn)