Variant #0000402763 (NC_000016.9:g.68772281C>A, CDH1(NM_004360.3):c.130C>A)

Individual ID 00178399
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.68772281C>A
DNA change (hg38) g.68738378C>A
Published as -
ISCN -
DB-ID CDH1_000198
Variant remarks not in 7051 cases breast cancer
Reference PubMed: Momozawa 2018, Journal: Momozawa 2018
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 2/11241 controls
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
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 ?/. 2 c.130C>A r.(?) p.(Arg44Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000179302 DNA SEQ - - CDH1 1 Yukihide Momozawa