Variant #0000694127 (NC_000016.9:g.88501516delC, NM_001367624.2:c.7638del (ZNF469))
Individual ID |
00311371 |
Chromosome |
16 |
Allele |
Paternal (confirmed) |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Affects function |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.88501516delC |
DNA change (hg38) |
g.88435108del |
Published as |
- |
ISCN |
- |
DB-ID |
ZNF469_000236 |
Variant remarks |
- |
Reference |
PubMed: Rech 2020 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
? |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Benjamin Billiet |
Database submission license |
No license selected |
Created by |
Benjamin Billiet |
Date created |
2020-09-23 12:11:16 +02:00 (CEST) |
Date last edited |
2024-10-17 14:16:22 +02:00 (CEST) |

Variant on transcripts
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