Variant #0000642290 (NC_000021.8:g.35821707C>T, KCNE1(NM_000219.4):c.226G>A)

Individual ID 00285398
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.35821707C>T
DNA change (hg38) g.34449409C>T
Published as -
ISCN -
DB-ID KCNE1_000079 See all 3 reported entries
Variant remarks -
Reference MORL Deafness Variation Database, PubMed: Tranebjærg 1993, PubMed: Alders 1993, PubMed: Duggal 1998, PubMed: Schulze-Bahr 1997, PubMed: Tyson 1997, PubMed: Abbott 2002 3, PubMed: Tester 2006 9, PubMed: Tester 2005, PubMed: Kurokawa 2003, PubMed: Splawski 1997, PubMed: Kapplinger 2009, PubMed: Amendola 2015
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 7.0E-5 View details
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.226G>A r.(?) p.(Asp76Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000286548 DNA ? - - KCNE1 1 Global Variome, with Curator vacancy