Variant #0000693040 (NC_000021.8:g.35821759G>C, KCNE1(NM_000219.4):c.174C>G)

Chromosome 21
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.35821759G>C
DNA change (hg38) -
Published as KCNE1(NM_000219.3):c.174C>G (p.T58=), KCNE1(NM_001127670.1):c.174C>G (p.T58=)
ISCN -
DB-ID KCNE1_000090 See all 4 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KCNE1 NM_000219.4 -?/. - c.174C>G r.(?) p.(Thr58=)