Variant #0000075679 (NC_000010.10:g.29277299_32553577del, NM_030751.5:c.0 (ZEB1))

Individual ID 00046902
Chromosome 10
Allele Maternal (confirmed)
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.29277299_32553577del
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
Segregation yes
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 2015-07-28 12:15:56 +02:00 (CEST)
Date last edited 2019-07-19 11:27:01 +02:00 (CEST)
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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     
0000047011 DNA arrayCNV;PCRlr;SEQ;SEQ-NG-I - - - 1 Cerys Evans


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