Variant #0000006989 (NC_000016.10:g.68823386T>C, CDH1(NM_004360.3):c.1937-13T>C)

Individual ID 00001252
Chromosome 16
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.68823386T>C
Reference -
DB-ID CDH1_000014
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Lina Nuñez-Private Practice
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
Options




Variant on transcripts


Gene     
AscendingTranscript     
Affects function     
Exon     
DNA change (cDNA)     
Protein     
Zygosity     
Co_ocurrence     
RNA change     
Review status     
CDH1 NM_004360.3 -/- 12i c.1937-13T>C p.(=) Hetero no r.(=) -



Screenings


AscendingScreening ID     
Template     
Technique     
Lab     
Remarks     
Date of test     
Type of test     
Genes screened     
Variants found     
Owner     
0000001491 DNA SEQ-NG Domeq&Lafage - 27-sep-2019 Multigenetic panel BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN, SMAD4, STK11, TP53 16 Lina Nuñez-Private Practice

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