Variant #0000058787 (NC_000016.9:g.68772210G>A, CDH1(NM_004360.3):c.59G>A)

Individual ID 00032551
Chromosome 16
Allele Unknown
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.68772210G>A
DNA change (hg38) g.68738307G>A
Published as -
ISCN -
DB-ID CDH1_000067
Variant remarks -
Reference PubMed: Richards 1999, OMIM:var0009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Global Variome, with Curator vacancy
Database submission license No license selected
Created by Global Variome, with Curator vacancy
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CDH1 NM_004360.3 +/. 2 c.59G>A r.(?) p.(Trp20*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000032619 DNA SEQ - - CDH1 1 Global Variome, with Curator vacancy