Variant #0000281712 (NC_000021.8:g.35821821T>C, KCNE1(NM_000219.4):c.112A>G)

Chromosome 21
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.35821821T>C
DNA change (hg38) g.34449523T>C
Published as KCNE1(NM_000219.3):c.112A>G (p.S38G), KCNE1B(NM_001330065.1):c.121A>G (p.S41G)
ISCN -
DB-ID KCNE1_000076 See all 8 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.64179 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KCNE1 NM_000219.4 -/. - c.112A>G r.(?) p.(Ser38Gly)