Variant #0000642327 (NC_000021.8:g.35821923_35821926del, KCNE1(NM_000219.4):c.9_12del)

Individual ID 00285435
Chromosome 21
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.35821923_35821926del
DNA change (hg38) g.34449625_34449628del
Published as -
ISCN -
DB-ID KCNE1_000148
Variant remarks -
Reference MORL Deafness Variation Database, PubMed: Kapplinger 2009
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Global Variome, with Curator vacancy
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KCNE1 NM_000219.4 +/+ 4 c.9_12del r.(?) p.(Ser4Thrfs*5)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000286585 DNA ? - - KCNE1 1 Global Variome, with Curator vacancy