Variant #0000917422 (NC_000003.11:g.(128891420_128891575)insCAGG[15370], NC_000003.11(NM_003418.4):c.(-14-961_-14-806)insCCTG[15370] (CNBP))
Individual ID |
00430677 |
Chromosome |
3 |
Allele |
Parent #1 |
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.(128891420_128891575)insCAGG[15370] |
DNA change (hg38) |
g.129172577_129172732insCAGG[15370] |
Published as |
CCTG[15370] |
ISCN |
- |
DB-ID |
CNBP_000051 |
Variant remarks |
- |
Reference |
PubMed: Granger 2022 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2023-01-22 15:18:59 +01:00 (CET) |
Date last edited |
N/A |

Variant on transcripts
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