Variant #0000011559 (NC_000016.10:g.68819620G>A, CDH1(NM_004360.5):c.1906G>A)

Individual ID 00005201
Chromosome 16
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.68819620G>A
Reference -
DB-ID chr16_000002
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Instituto Nacional del Cancer
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_004360.5 ?/? 11 c.1906G>A p.Ala636Thr Hetero no r.? -



Screenings


AscendingScreening ID     
Template     
Technique     
Lab     
Remarks     
Date of test     
Type of test     
Genes screened     
Variants found     
Owner     
0000009385 DNA SEQ-NG GENOS ALK, APC, ATM, AXIN2, ACVRL1, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CDK12, CDK4, CDKN1B, CDKN2A, CHEK2, CFTR, EPCAM, EXT1, EXT2, ENG, EPAS1, FANCG, FH, FLCN, FANCC, GALNT12, GREM1, KIT, MAX, MEN1, MET, MLH1, MLH3, MRE11, MSH2, MSH3, MSH6, MUTYH, MC1R, MDH2, MITF, MSR1, NBN, NF1, NF2, NTHL1, NTRK1, PALB2, PDGFRA, PHOX2B, PMS1, PMS2, POLD1, POLE, PRSS1, PTCH1, PTCH2, PTEN, RAD50, RAD51C, RAD51D, RB1, RET, RHBDF2, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SPINK1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, WT1, XPC 11-Jul-2025 Multigenetic panel - 3 Maria Laura Gonzalez-Hospital Italiano

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