Variant #0000704346 (NC_000021.8:g.35821929T>A, KCNE1(NM_000219.4):c.4A>T)

Individual ID 00320302
Chromosome 21
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.35821929T>A
DNA change (hg38) g.34449631T>A
Published as -
ISCN -
DB-ID KCNE1_000151
Variant remarks -
Reference PubMed: Isbister 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KCNE1 NM_000219.4 ?/. - c.4A>T r.(?) p.(Ile2Phe)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000321488 DNA SEQ;SEQ-NG - - KCNE1, ZHX3 2 Johan den Dunnen