Variant #0000612458 (NC_000010.10:g.31810038T>C, NM_030751.5:c.1775T>C (ZEB1))

Chromosome 10
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.31810038T>C
DNA change (hg38) g.31521110T>C
Published as ZEB1(NM_001323638.1):c.1121T>C (p.L374P)
ISCN -
DB-ID ZEB1_000055
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) 4.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2019-12-04 15:24:38 +01:00 (CET)
Date last edited 2024-02-26 20:06:56 +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.1778T>C r.(?) p.(Leu593Pro)
ZEB1 NM_030751.5 ?/. - c.1775T>C r.(?) p.(Leu592Pro)


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