Variant #0000007408 (NC_000016.10:g.68823538T>C, CDH1(NM_004360.3):c.2076T>C)

Individual ID 00001291
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.68823538T>C
Reference -
DB-ID CDH1_000001 See all 33 reported entries
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

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Co_ocurrence     

RNA change     

Review status     
CDH1 NM_004360.3 -/- 13 c.2076T>C p.(=) Homo no r.(=) -



Screenings


AscendingScreening ID     

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Technique     

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Date of test     

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Variants found     

Owner     
0000001530 DNA CNV;SEQ-NG IACA - 18-jun-2019 Multigenetic panel ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, NBN, PALB2, PTEN, STK11, TP53 20 Silvina Sisterna-Hospital de Comunidad