Variant #0000822859 (NC_000001.10:g.41285137G>T, NM_004700.3:c.827G>T (KCNQ4))

Individual ID 00391289
Chromosome 1
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.41285137G>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID KCNQ4_000092
Variant remarks -
Reference PubMed: Sommen 2016, Journal: Sommen 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-11-15 14:48:47 +01:00 (CET)
Date last edited 2021-11-15 14:50:34 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KCNQ4 NM_004700.3 ?/. - c.827G>T r.(?) p.(Trp276Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000392531 DNA SEQ;SEQ-NG-I - - KCNQ4 1 Johan den Dunnen


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