Variant #0000649381 (NC_000016.9:g.68772227G>T, CDH1(NM_004360.3):c.76G>T)

Individual ID 00291524
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.68772227G>T
DNA change (hg38) g.68738324G>T
Published as -
ISCN -
DB-ID CDH1_000377
Variant remarks 8 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs786201058
Origin Germline
Segregation -
Frequency 8/2746 individuals
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Mohammed Faruq
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.76G>T r.(?) p.(Glu26*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000292692 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq