Full data view for gene XPC

Information The variants shown are described using the NM_004628.5 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     

Allele     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Template     

Technique     

Date of test     

Lab     

Remarks     

Type of test     

Disease     

Ethnic origin     

Reference     

Remarks     

Cuadro familiar     

Panel size     

Owner     
+/+ 13 c.2287del p.(Leu763Cysfs*4) Hetero N/A r.(2287del) - Unknown g.14148696del - XPC_000002 rs1553604559 - DNA SEQ-NG 7-jul-2023 Hospital Privado Centro Médico de Córdoba Breast and Ovarian Cancer panel (31 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1,CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, NF2, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53, XPC Multigenetic panel N/A Spanish/Native argentinian - Italian - - Pancreatic cancer 1 Claudia Martin-Hospital de Córdoba
?/? 15 c.2561G>A p.(Gly854Asp) Hetero no r.(2561g>a) - Unknown g.14147333C>T - XPC_000001 rs372943289 - DNA SEQ-NG 17-01-23 Hospital Privado Centro Médico de Córdoba hereditary cancer panel (105 genes) Multigenetic panel Breast cancer Arabian - - Bladder cancer 1 Claudia Martin-Hospital de Córdoba
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