Variant #0000638894 (NC_000001.10:g.41296966C>T, NM_004700.3:c.1503C>T (KCNQ4))

Individual ID 00282002
Chromosome 1
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.41296966C>T
DNA change (hg38) g.40831294C>T
Published as -
ISCN -
DB-ID KCNQ4_000078
Variant remarks -
Reference MORL Deafness Variation Database, PubMed: Shearer 1993, PubMed: Smith 1993, PubMed: Su 2007
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Global Variome, with Curator vacancy
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2020-02-05 13:36:16 +01:00 (CET)
Date last edited 2020-04-16 16:06:14 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KCNQ4 NM_004700.3 ?/? 10 c.1503C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000283152 DNA ? - - KCNQ4 1 Global Variome, with Curator vacancy


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