Full data view for gene PTEN

Information The variants shown are described using the NM_000314.6 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Allele     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

Template     

Technique     

Date of test     

Lab     

Remarks     

Type of test     

Disease     

Ethnic origin     

Reference     

Remarks     

Cuadro familiar     

Panel size     

Owner     
?/? 8 c.-6C>A . Hetero no . Unknown g.87864464C>A - PTEN_000002 DNA SEQ-NG, z-score-CNV 25-oct-2017 Héritas Panel Héritas (17 genes) BRCA1-BRCA2-PTEN-TP53-ATM-CDH1-CHEK2-NBN-PALB2-STK11-BRIP1-RAD51C-RAD51D-MLH1-MSH2-MSH6-PMS2 Multigenetic panel - Caucasian - - - 1 Gonzalo Tabares-CEMA
?/? 8 c.-6C>A . Hetero no . Unknown g.87864464C>A - PTEN_000002 DNA SEQ-NG, z-score-CNV 25-oct-2017 Héritas Panel Héritas (17 genes) BRCA1-BRCA2-PTEN-TP53-ATM-CDH1-CHEK2-NBN-PALB2-STK11-BRIP1-RAD51C-RAD51D-MLH1-MSH2-MSH6-PMS2 - - Caucasian - - - 1 Gonzalo Tabares-CEMA
?/? 5'UTR c.-869G>C . Hetero no . Unknown g.87863601G>C - PTEN_000007 DNA CNV, SEQ-NG 15-aug-2019 Hospital Privado Centro Médico de Córdoba Panel breast-ovarian (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53) Multigenetic panel Breast cancer Russian/Turk - - MAMA/PANCREAS FAMILIAR 1 Norma Rossi-Hospital Privado Centro Médico de Córdoba
?/? 9 c.1187A>G p.(Gln396Arg) Hetero no . Unknown g.87965447A>G - PTEN_000008 DNA CNV, SEQ-NG 15-aug-2019 Hospital Privado Centro Médico de Córdoba Panel breast-ovarian (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53) Multigenetic panel Breast cancer Italian - - MAMA/OVARIO FAMILIAR 1 Norma Rossi-Hospital Privado Centro Médico de Córdoba
+/+ 1 c.49C>T p.(Gln17*) Hetero N/A . Unknown g.87864518C>T - PTEN_000005 DNA SEQ 31-jan-2018 CeNaGeM - Known familial mutation - Unknown - - - 1 Rossana Espindola-Instituto de Genética Humana
+/+ 6 c.635-2A>C . Hetero N/A . Unknown g.87957851A>C - PTEN_000004 DNA CNVs, SEQ-NG 27-aug-2018 Hospital Privado Centro Médico de Córdoba Panel breast&, ovarian 24 genes (ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, CDC73, DICER1, EPCAM, FANCC, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PMS2, PTEN, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53) Multigenetic panel -- Italian - - - 1 Cecilia Montes-Hospital de Niños de la Santisima Trinidad
+/+ 7 c.702_703delinsC p.(Glu235Lysfs*21) Hetero N/A . Unknown g.87957920_87957921delinsC - PTEN_000009 DNA CNV, SEQ-NG 17-apr-2020 Hospital Privado Centro Médico de Córdoba Panel breast-ovarian (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53) Multigenetic panel - Unknown - (explica cuadro/antec personales) - 1 Claudia Martin-Hospital Privado Centro Médico de Córdoba
-?/-? 7i c.802-3del . Hetero BRCA1 . Unknown g.87960891delT - PTEN_000001 DNA SEQ-NG, z-score-CNV 23-may-2017 Héritas Panel Héritas (12 genes) - - Spanish - - - 1 Alejandra Mampel-Hospital Universitario de Mendoza
-?/-? 7i c.802-3del . Hetero BRCA1 . Unknown g.87960891delT - PTEN_000001 DNA SEQ-NG, z-score-CNV 21-jul-2017 Héritas - Multigenetic panel - Caucasian - - - 1 Gonzalo Tabares-CEMA
-?/-? 7i c.802-3del . Hetero no . Unknown g.87960891delT - PTEN_000001 DNA SEQ-NG, z-score-CNV 19-jul-2017 Héritas - Multigenetic panel - Caucasian - - - 1 Gonzalo Tabares-CEMA
-?/-? 7i c.802-3del . Hetero no . Unknown g.87960891delT - PTEN_000001 DNA SEQ-NG, z-score-CNV 25-jul-2017 Héritas - Multigenetic panel - Caucasian - - - 1 Gonzalo Tabares-CEMA
-?/-? 7i c.802-3del . Hetero no . Unknown g.87960891delT - PTEN_000001 DNA SEQ-NG, z-score-CNV 10-ago-2017 Héritas Panel Héritas (10 genes) - - Italian-German - - - 1 Gonzalo Tabares-CEMA
-/-? 7i c.802-3del . Hetero no . Unknown g.87960877del - PTEN_000001 DNA CNV, SEQ-NG 5-jul-2017 Héritas - Multigenetic panel - Argentinian - - - 1 Laura Vargas Roig-IMBECU
-/- 7i c.802-3del . Hetero no . Unknown g.87960877del Reclassified November 2020 PTEN_000001 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
-/- 7i c.802-3dup . Hetero MLH1 . Unknown g.87960891dupT - PTEN_000003 DNA SEQ-NG, z-score-CNV 2-aug-2017 Héritas Panel Héritas ovario(18 genes) ATM-BRIP-CDH1-CHEK2-DICER1-EPCAM-MLH1-MSH2-MSH6-MUTYH-NBN-PALB2-PMS2-PTEN-RAD51C-RAD51D-STK11-TP53 Multigenetic panel - Spanish-Italian - - - 1 Gonzalo Tabares-CEMA
-/- 7i c.802-3dup . Hetero MLH1 . Unknown g.87960891dupT - PTEN_000003 DNA SEQ-NG, z-score-CNV 2-aug-2017 Héritas Panel Héritas ovario(18 genes) ATM-BRIP-CDH1-CHEK2-DICER1-EPCAM-MLH1-MSH2-MSH6-MUTYH-NBN-PALB2-PMS2-PTEN-RAD51C-RAD51D-STK11-TP53 Multigenetic panel - Spanish-Italian - - - 1 Gonzalo Tabares-CEMA
+/+ 8 c.823del p.(Val275*) Hetero N/A . Unknown g.87960915del - PTEN_000006 DNA SEQ-NG 19-jan-2020 Invitae-Genia Invitae Colorectal Panel (30 genes) Multigenetic panel - Spanish-Italian - CIA (antec personales/explica cuadro) - 1 Maria Gonzalez-Hospital Italiano
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