Variant #0000023143 (NC_000021.8:g.35821695C>T, KCNE1(NM_000219.4):c.238G>A)

Individual ID 00004255
Chromosome 21
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.35821695C>T
DNA change (hg38) g.34449397C>T
Published as -
ISCN -
DB-ID KCNE1_000070 See all 3 reported entries
Variant remarks -
Reference PubMed: Riuro 2014
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 4.0E-5 View details
Owner Anna Iglesias
Database submission license No license selected
Created by Anna Iglesias
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KCNE1 NM_000219.4 ?/? 3 c.238G>A r.(?) p.(Val80Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000004183 DNA SEQ - - KCNE1, KCNE2, KCNH2, KCNQ1, SCN5A 1 Anna Iglesias