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 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2023-01-22 15:18:59 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
CNBP NM_003418.4 +/. - c.(-14-961_-14-806)insCCTG[15370] CCTG[15370] r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000432087 DNA SEQ;SEQ-NG - - - 1 Johan den Dunnen


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