Variant #0000647895 (NC_000010.10:g.31810782A>C, NM_030751.5:c.2519A>C (ZEB1))

Individual ID 00290038
Chromosome 10
Allele Parent #1
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.31810782A>C
DNA change (hg38) g.31521854A>C
Published as -
ISCN -
DB-ID ZEB1_000046 See all 3 reported entries
Variant remarks 17 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs118020901
Origin Germline
Segregation -
Frequency 17/2794 individuals
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00758 View details
Owner Mohammed Faruq
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-03-11 19:46:11 +01:00 (CET)
Date last edited 2024-02-23 18:48:40 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ZEB1 NM_001174096.1 +/. - c.2522A>C r.(?) p.(Gln841Pro)
ZEB1 NM_030751.5 +/. - c.2519A>C r.(?) p.(Gln840Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000291206 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq


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