Variant #0000407243 (NC_000016.9:g.68835594G>T, CDH1(NM_004360.3):c.185G>T)

Individual ID 00182393
Chromosome 16
Allele Parent #1
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.68835594G>T
DNA change (hg38) g.68801691G>T
Published as -
ISCN -
DB-ID CDH1_000033 See all 5 reported entries
Variant remarks -
Reference PubMed: Momozawa 2018, Journal: Momozawa 2018
ClinVar ID -
dbSNP ID rs786203727
Origin Germline
Segregation -
Frequency 43/12490 controls
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Yukihide Momozawa
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.185G>T r.(?) p.(Gly62Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000183353 DNA SEQ - - CDH1 1 Yukihide Momozawa