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)     

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DB-ID     

dbSNP ID     

Variant remarks     

Template     

Technique     

Date of test     

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Type of test     

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Panel size     

Owner     
?/? 5 c.528T>A p.(Asp176Glu) Hetero no r.(528u>a) - Unknown g.31169939T>A - NF1_000016 - - DNA SEQ-NG 14-dec-2021 Hospital Privado Centro Médico de Córdoba PANEL CÁNCER MAMA-OVARIO (30 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 Multigenetic panel -- Spanish/Syrians - - - 1 Virginia Miretti-Hospital de Córdoba
?/? 5 c.528T>A p.(Asp176Glu) Hetero no r.(528u>a) - Unknown g.31169939T>A - NF1_000016 rs112306990 - DNA SEQ-NG 20-01-23 Fundación para el Progreso de la Medicina Breast and Ovarian Cancer panel (30 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, NF2, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, SDHB, SDHD, STK11, TP53. Multigenetic panel N/A Spanish/spanish - Lituanian/Lituanian - - Acute lymphoblastic leukemia, Bile duct cancer, Endometrial cancer 1 Norma Rossi - Sanatorio Allende
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