Variant #0000289912 (NC_000014.8:g.105614533T>C, JAG2(NM_002226.4):c.2168A>G)

Chromosome 14
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.105614533T>C
DNA change (hg38) g.105148196T>C
Published as JAG2(NM_002226.5):c.2168A>G (p.N723S)
ISCN -
DB-ID JAG2_000002
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
JAG2 NM_002226.4 ?/. - c.2168A>G r.(?) p.(Asn723Ser)