Full data view for gene NF1

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

4 entries on 1 page. Showing entries 1 - 4.
Legend   How to query  

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     
-/- 7 c.702G>A p.(=) Hetero no r.(=) RECLASSIFIED JUNE 2019 Unknown g.31181757G>A - NF1_000002 - - DNA SEQ-NG 20-apr-2017 Dasa Genómica - Genia, INVITAE Invitae Breast Cancer Panel Multigenetic panel Breast cancer Syrian-Sephardic-Polish-Ashkenazi - - Breast cancer 1 Lina Nuñez-Private Practice
-/- 7 c.702G>A p.(=) Hetero no r.(=) - Unknown g.31181757G>A - NF1_000002 - - DNA CNV, SEQ-NG 2-aug-2018 IACA CNV test of BRCA1, BRCA2, PALB2, RAD51C, RAD51D, TP53. Multigenetic panel Breast cancer Italian-French-Basque - - Melanoma 1 Silvina Sisterna-Hospital de Comunidad
./- 7 c.702G>A p.(=) Not specified ATM r.(=) - Unknown g.31181757G>A - NF1_000002 - - DNA CNV, SEQ-NG 27-dec-2019 IACA - Multigenetic panel Breast cancer, Schwanoma Italian - (antec ambos/explica cuadro) Breast cancer, Melanoma 1 Silvina Sisterna-Hospital de Comunidad
-?/- 7 c.702G>A p.(=) Hetero no r.(=) - Unknown g.31181757G>A - NF1_000002 - - DNA SEQ-NG 22-nov-2019 Biogenotec Panel (APC, ATM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD51D, RAD51D, SMAD4, STK11, TP53, EPCAM) Multigenetic panel - Unknown - - - 1 Laura Vargas Roig-IMBECU
Legend   How to query