Variant #0000814412 (NC_000010.10:g.31809703_31809704del, NM_030751.5:c.1440_1441del (ZEB1))

Individual ID 00385503
Chromosome 10
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.31809703_31809704del
DNA change (hg38) g.31520775_31520776del
Published as ZEB1 c.1440_1441del p.(Gln481AlafsTer2) het
ISCN -
DB-ID ZEB1_000062
Variant remarks heterozygous
Reference PubMed: Lenassi 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2021-10-12 17:40:23 +02:00 (CEST)
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.1443_1444del r.(?) p.(Gln482Alafs*2)
ZEB1 NM_030751.5 +/. - c.1440_1441del r.(?) p.(Gln481AlafsTer2)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000386732 DNA SEQ-NG blood 32 genes panel tested ZEB1 1 LOVD


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