Variant #0000058798 (NC_000016.9:g.68771031del, CDH1(NM_004360.3):c.-288delT)

Individual ID 00032562
Chromosome 16
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.68771031del
DNA change (hg38) g.68737128del
Published as -
ISCN -
DB-ID CDH1_000078
Variant remarks expression cloning 0.8 activity in luciferase promoter construct
Reference PubMed: Nakamura 2002
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 Johan den Dunnen
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     
CDH1 NM_004360.3 +/. _1 c.-288delT r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000032630 DNA SEQ - - CDH1 1 Johan den Dunnen