Variant #0000998273 (NC_000010.10:g.31750140A>C, NM_030751.5:c.233A>C (ZEB1))

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.31750140A>C
DNA change (hg38) -
Published as ZEB1(NM_001174093.1):c.233A>C (p.(Asn78Thr))
ISCN -
DB-ID ZEB1_000072
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) 0.00374 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2024-08-28 13:16:32 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ZEB1 NM_001174096.1 +/. - c.233A>C r.(?) p.(Asn78Thr)
ZEB1 NM_030751.5 +/. - c.233A>C r.(?) p.(Asn78Thr)


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