Variant #0000484338 (NC_000014.8:g.105615389C>T, JAG2(NM_002226.4):c.1791G>A)

Individual ID 00239197
Chromosome 14
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.105615389C>T
DNA change (hg38) g.105149052C>T
Published as M597I
ISCN -
DB-ID JAG2_000003
Variant remarks -
Reference PubMed: Vieira 2005
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00024 View details
Owner Johan den Dunnen
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.1791G>A r.(?) p.(Met597Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000240300 DNA SEQ - candidate gene panel JAG2 1 Johan den Dunnen