Variant #0000007500 (NC_000016.10:g.68822063G>A, CDH1(NM_004360.3):c.1774G>A)

Individual ID 00001073
Chromosome 16
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.68822063G>A
Reference -
DB-ID CDH1_000016
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Silvina Sisterna-Hospital de Comunidad
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 ./- 12 c.1774G>A p.(Ala592Thr) Not available ATM r.(?) -



Screenings


AscendingScreening ID     
Template     
Technique     
Lab     
Remarks     
Date of test     
Type of test     
Genes screened     
Variants found     
Owner     
0000001284 DNA CNV;SEQ-NG IACA - 27-dec-2019 Multigenetic panel ATM, BARD1, BRCA1, BRCA2, CDH1, CHEK2, NBN, NF1, NF2, PALB2, PTEN, STK11, TP53 20 Silvina Sisterna-Hospital de Comunidad

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