Variant #0000784028 (NC_000014.8:g.(?_104000000)_(107260000_?)del, JAG2(NM_002226.4):c.-403_*1714{0})

Individual ID 00372529
Chromosome 14
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_104000000)_(107260000_?)del
DNA change (hg38) -
Published as 14q32.33del
ISCN -
DB-ID JAG2_000004
Variant remarks 3.2 Mb terminal deletion
Reference PubMed: Coppens 2021, Journal: Coppens 2021
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
JAG2 NM_002226.4 +/. _1_26_ c.-403_*1714{0} r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000373762 DNA SEQ-NG - WES JAG2 2 LOVD