Variant #0000650845 (NC_000021.8:g.35821904G>A, KCNE1(NM_000219.4):c.29C>T)

Individual ID 00292988
Chromosome 21
Allele Parent #1
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.35821904G>A
DNA change (hg38) g.34449606G>A
Published as -
ISCN -
DB-ID KCNE1_000096 See all 5 reported entries
Variant remarks conflicting interpretations of pathogenicity; 4 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs144917638
Origin Germline
Segregation -
Frequency 4/2793 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00022 View details
Owner Mohammed Faruq
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.29C>T r.(?) p.(Thr10Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000294156 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq