Individual #00003488

Ethnic origin Spanish/Spanish
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     
0000003811 DNA SEQ-NG CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS ACD, AIP, AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FANCA, FANCC, FANCL, FANCM, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PIK3CA, PMS2, POLD1, POLE, POT1, PTEN, RAD50, RAD51B, RAD51C, RAD51D, RB1, RET, RINT1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SPRED1, STK11, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2. 07-jun-2024 Multigenetic panel - 4 Marcela Lopez-CEMAFE



Variants

4 entries on 1 page. Showing entries 1 - 4.
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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.37001036T>G - MLH1_000067 - - Marcela Lopez-CEMAFE MLH1 3 NM_000249.4:c.289T>G p.(Tyr97Asp) Hetero no r.(?) -
10 Unknown ?/? g.43112114C>G - RET_000018 rs149238501 - Marcela Lopez-CEMAFE RET 8 NM_020975.5:c.1538C>G p.(Ala513Gly) Hetero no r.? -
14 Unknown ?/? g.95111419C>G - DICER1_000016 rs1555371628 - Marcela Lopez-CEMAFE DICER1 16 NM_177438.3:c.2154G>C p.(Glu718Asp) Hetero no r.? -
22 Unknown ?/? g.28695758T>C - CHEK2_000046 - - Marcela Lopez-CEMAFE CHEK2 12 NM_007194.4:c.1211A>G p.(Tyr404Cys) Hetero no r.? -
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