Variant #0000577963 (NC_000010.10:g.31608164A>G, NM_030751.5:c.1A>G (ZEB1))

Individual ID 00248132
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.31608164A>G
DNA change (hg38) g.31319235A>G
Published as -
ISCN -
DB-ID ZEB1_000012
Variant remarks -
Reference PubMed: Vincent 2009
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 Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2015-07-29 18:31:53 +02:00 (CEST)
Date last edited 2020-06-26 14:10:11 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ZEB1 NM_030751.5 +/. - c.1A>G r.(?) p.(Met1?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000249237 DNA SEQ - - ZEB1 1 Cerys Evans


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