Variant #0000095515 (NC_000021.8:g.35821827G>A, KCNE1(NM_000219.4):c.106C>T)

Individual ID 00064157
Chromosome 21
Allele Unknown
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.35821827G>A
DNA change (hg38) g.34449529G>A
Published as NM_001127670:c.C106T
ISCN -
DB-ID KCNE1_000071 See all 2 reported entries
Variant remarks -
Reference PubMed: Lopes 2013, Journal: Lopes 2013
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/223 cases HCM
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 4.0E-5 View details
Owner Johan den Dunnen
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.106C>T r.(?) p.(Arg36Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000064290 DNA SEQ - - TTN 5 Johan den Dunnen