Variant #0000242598 (NC_000021.8:g.35821778C>G, KCNE1(NM_000219.4):c.155G>C)

Individual ID 00148421
Chromosome 21
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.35821778C>G
DNA change (hg38) g.34449480C>G
Published as -
ISCN -
DB-ID KCNE1_000075
Variant remarks -
Reference PubMed: Ackerman 2003
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/305 controls
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KCNE1 NM_000219.4 -/- 4 c.155G>C r.(?) p.(Gly52Ala)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000149277 DNA SEQ - - KCNE1 1 Johan den Dunnen