Variant #0000863480 (NC_000014.8:g.105609208C>T, JAG2(NM_002226.4):c.3541G>A)

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.105609208C>T
DNA change (hg38) -
Published as JAG2(NM_002226.5):c.3541G>A (p.E1181K)
ISCN -
DB-ID JAG2_000019
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 6.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
JAG2 NM_002226.4 ?/. - c.3541G>A r.(?) p.(Glu1181Lys)