Variant #0000075680 (NC_000010.10:g.31784795_31855747delinsACACACAC, NC_000010.10(NM_030751.5):c.319+28_*39555delinsACACACAC (ZEB1))
Individual ID |
00046903 |
Chromosome |
10 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic (dominant) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.31784795_31855747delinsACACACAC |
DNA change (hg38) |
g.31495866_31566819delinsACACACAC |
Published as |
- |
ISCN |
- |
DB-ID |
ZEB1_000002 |
Variant remarks |
Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message. |
Reference |
PubMed: Liskova 2016, Journal: Liskova 2016 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline/De novo (untested) |
Segregation |
? |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Cerys Evans |
Database submission license |
No license selected |
Created by |
Cerys Evans |
Date created |
2015-07-28 12:29:14 +02:00 (CEST) |
Date last edited |
2019-07-19 11:30:11 +02:00 (CEST) |

Variant on transcripts
Screenings
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