Variant #0000784009 (NC_000014.8:g.105612090A>G, JAG2(NM_002226.4):c.2930T>C)

Individual ID 00372530
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.105612090A>G
DNA change (hg38) g.105145753A>G
Published as -
ISCN -
DB-ID JAG2_000006
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) Variant not found in online data sets
Owner LOVD
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 +/. - c.2930T>C r.(?) p.(Phe977Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000373763 DNA SEQ-NG - WES JAG2 1 LOVD