Full data view for gene NF1

Information The variants shown are described using the 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     
-?/-? 2 c.168C>T p.(=) Hetero no r.(=) - Unknown g.31156090C>T - NF1_000003 - - DNA SEQ-NG 29-jun-2018 Héritas Panel Héritas (BRCA1,BRCA2,PTEN,TP53,ATM,CDH1,CHEK2,NBN,NF1,STK11,BRIP1,RAD51C,RAD51D,MLH1,MSH2,MSH6,PMS2,EPCAM,APC,MUTYH,BMPR1A,SMAD4,CDKN2A,CDK4) Multigenetic panel - Spanish - - - 1 Laura Vargas Roig-IMBECU
-?/-? 2 c.168C>T p.(=) Hetero BRCA1 r.(=) - Unknown g.31156090C>T - NF1_000003 - - DNA SEQ-NG, z-score-CNV 11-dec-2018 Héritas Panel Héritas (25 genes) BRCA1-BRCA2-PTEN-TP53-ATM-CDH1-CHEK2-NBN-NF1-PALB2-STK11-BRIP1-RAD51C-RAD51D-MLH1-MSH2-MSH6-PMS2-APC-MUTYH-BMPR1A-SMAD4-CDKN2A-CDK4-EPCAM) Multigenetic panel -- Spanish - - - 1 Laura Vargas Roig-IMBECU
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