Variant #0000889123 (NC_000010.10:g.31810321_31810325dup, NM_030751.5:c.2058_2062dup (ZEB1))

Chromosome 10
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.31810321_31810325dup
DNA change (hg38) -
Published as -
ISCN -
DB-ID ZEB1_000065
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
Date created 2022-11-01 13:01:21 +01:00 (CET)
Date last edited 2024-02-26 20:06:56 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ZEB1 NM_001174096.1 +?/. - c.2061_2065dup r.(?) p.(Val689Alafs*23)
ZEB1 NM_030751.5 +?/. - c.2058_2062dup r.(?) p.(Val688Alafs*23)


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