Variant #0000079005 (NC_000010.10:g.(31298325_31350494)_(32214122_32285574)del, NM_030751.5:c.0 (ZEB1))

Individual ID 00046952
Chromosome 10
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.(31298325_31350494)_(32214122_32285574)del
DNA change (hg38) -
Published as -
ISCN -
DB-ID ZEB1_000000 See all 2 reported entries
Variant remarks -
Reference PubMed: Liskova 2016, Journal: Liskova 2016
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation ?
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Cerys Evans
Database submission license No license selected
Created by Cerys Evans
Date created 2015-09-22 12:03:37 +02:00 (CEST)
Date last edited 2019-07-19 11:32:53 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ZEB1 NM_030751.5 +/. _1_9_ c.0 r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050051 DNA arrayCNV;PCRq - - ZEB1 1 Cerys Evans


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