Variant #0000954077 (NC_000010.10:g.31809839del, NM_030751.5:c.1576del (ZEB1))

Individual ID 00444318
Chromosome 10
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.31809839del
DNA change (hg38) g.31520911del
Published as 1576delG
ISCN -
DB-ID ZEB1_000066
Variant remarks -
Reference PubMed: Moon 2021
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 2023-12-21 19:04:03 +01:00 (CET)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ZEB1 NM_030751.5 +/. - c.1576del r.(?) p.(Val526Ter)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000445892 DNA SEQ;SEQ-NG - gene panel - 1 Johan den Dunnen


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