Variant #0000642300 (NC_000021.8:g.35821756_35821761delinsAGGGGG, KCNE1(NM_000219.4):c.172_177delinsCCCCCT)

Individual ID 00285408
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.35821756_35821761delinsAGGGGG
DNA change (hg38) g.34449458_34449463delinsAGGGGG
Published as -
ISCN -
DB-ID KCNE1_000125
Variant remarks -
Reference MORL Deafness Variation Database, PubMed: Tranebjærg 1993, PubMed: Tyson 1997, PubMed: Huang 2001
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KCNE1 NM_000219.4 +/+ 4 c.172_177delinsCCCCCT r.(?) p.(Thr58_Leu59delinsProPro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000286558 DNA ? - - KCNE1 1 Global Variome, with Curator vacancy