Variant #0000784013 (NC_000014.8:g.105613026C>T, JAG2(NM_002226.4):c.2515G>A)

Individual ID 00372534
Chromosome 14
Allele Both (homozygous)
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.105613026C>T
DNA change (hg38) g.105146689C>T
Published as -
ISCN -
DB-ID JAG2_000007 See all 6 reported entries
Variant remarks -
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) 2.0E-5 View details
Owner LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
JAG2 NM_002226.4 +/. - c.2515G>A r.(?) p.(Gly839Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000373767 DNA SEQ-NG - WES JAG2 1 LOVD