Variant #0000075680 (NC_000010.10:g.31784795_31855747delinsACACACAC, NC_000010.10(NM_030751.5):c.319+28_*39555delinsACACACAC (ZEB1))

Individual ID 00046903
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.31784795_31855747delinsACACACAC
DNA change (hg38) g.31495866_31566819delinsACACACAC
Published as -
ISCN -
DB-ID ZEB1_000002
Variant remarks Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message.
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 2015-07-28 12:29:14 +02:00 (CEST)
Date last edited 2019-07-19 11:30:11 +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 +/. 3i_9_ c.319+28_*39555delinsACACACAC r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000047012 DNA arrayCNV;PCRlr;SEQ - - - 1 Cerys Evans


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