Variant #0000683188 (NC_000020.10:g.(?_9085395)_(11982624_?)del, NM_000214.2:c.-516_*1814{0} (JAG1))

Individual ID 00307637
Chromosome 20
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_9085395)_(11982624_?)del
DNA change (hg38) -
Published as gross deletion 9085395-11982624
ISCN -
DB-ID JAG1_000000 See all 23 reported entries
Variant remarks -
Reference PubMed: Ohashi 2017
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
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 2020-08-17 09:33:27 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
JAG1 NM_000214.2 +/. _1_26_ c.-516_*1814{0} r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000308777 DNA arrayCGH - - JAG1 1 Johan den Dunnen


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