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 International |
Created by |
VKGL-NL_Leiden |
Date created |
2024-08-28 13:16:32 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
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