Variant #0000242625 (NC_000021.8:g.35821821T>C, KCNE1(NM_000219.4):c.112A>G)

Individual ID 00148448
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.35821821T>C
DNA change (hg38) g.34449523T>C
Published as 114G>A (G38S)
ISCN -
DB-ID KCNE1_000076 See all 8 reported entries
Variant remarks -
Reference PubMed: Ackerman 2003
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.64179 View details
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.112A>G r.(?) p.(Ser38Gly)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000149304 DNA SEQ - - KCNE1 1 Johan den Dunnen