Variant #0000743412 (NC_000016.9:g.68835591_68835592delinsGTG, CDH1(NM_004360.3):c.182_183delinsGTG)

Individual ID 00342551
Chromosome 16
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification NA
DNA change (genomic) (Relative to hg19 / GRCh37) g.68835591_68835592delinsGTG
DNA change (hg38) -
Published as chr16_68835591_CC_GTG
ISCN -
DB-ID CDH1_000411
Variant remarks not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types
Reference PubMed: Dorling 2021, Journal: Dorling 2021
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/60466 cases
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner BRIDGES consortium
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 ?/. - c.182_183delinsGTG r.(?) p.(Thr61Serfs*33)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000343781 DNA SEQ-NG - 34-gene panel CDH1 1 BRIDGES consortium