Individual #00003492

Ethnic origin Spanish/Italian
Reference -
Remarks -
Cuadro familiar Colon cancer
Panel size 1
Diseases Colon cancer
Owner name Marcela Lopez-CEMAFE
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000003815 DNA SEQ-NG CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS ABRAXAS1, ACD, AIP, AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, CTRC, DDB2, DICER1, DIS3L2, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GALNT12, GATA2, GPC3, GREM1, HOXB13, KIF1B, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NSD1, NTHL1, PALB2, PDGFRA, PHOX2B, PIK3CA, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RB1, RET, RHBDF2, RINT1, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, SPINK1, SPRED1, STK11, SUFU, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, WT1, XPA, XPC, XRCC2. 09-may-2024 Multigenetic panel - 3 Marcela Lopez-CEMAFE



Variants

3 entries on 1 page. Showing entries 1 - 3.
Legend   How to query  

Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Owner     

Gene     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
3 Unknown ?/? g.128487002C>A - GATA2_000004 rs367785289 - Marcela Lopez-CEMAFE GATA2 2 NM_032638.5:c.30G>T p.(Trp10Cys) Hetero no r.(?)r.? -
15 Unknown +?/+? g.90754939G>A - BLM_000022 rs1179486581 - Marcela Lopez-CEMAFE BLM 5i NM_000057.4:c.1087+1G>A p.? Hetero no r.? -
16 Unknown ?/? g.89764976G>C - FANCA_000022 - - Marcela Lopez-CEMAFE FANCA 28 NM_000135.4:c.2692C>G p.(Leu898Val) Hetero no r.? -
Legend   How to query