All variants in the PTEN gene

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     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

Owner     
?/? 8 c.-6C>A . Hetero no . g.87864464C>A - PTEN_000002 Gonzalo Tabares-CEMA
?/? 8 c.-6C>A . Hetero no . g.87864464C>A - PTEN_000002 Gonzalo Tabares-CEMA
?/? 5'UTR c.-869G>C . Hetero no . g.87863601G>C - PTEN_000007 Norma Rossi-Hospital Privado Centro Médico de Córdoba
?/? 9 c.1187A>G p.(Gln396Arg) Hetero no . g.87965447A>G - PTEN_000008 Norma Rossi-Hospital Privado Centro Médico de Córdoba
+/+ 1 c.49C>T p.(Gln17*) Hetero N/A . g.87864518C>T - PTEN_000005 Rossana Espindola-Instituto de Genética Humana
+/+ 6 c.635-2A>C . Hetero N/A . g.87957851A>C - PTEN_000004 Cecilia Montes-Hospital de Niños de la Santisima Trinidad
+/+ 7 c.702_703delinsC p.(Glu235Lysfs*21) Hetero N/A . g.87957920_87957921delinsC - PTEN_000009 Claudia Martin-Hospital Privado Centro Médico de Córdoba
-?/-? 7i c.802-3del . Hetero BRCA1 . g.87960891delT - PTEN_000001 Alejandra Mampel-Hospital Universitario de Mendoza
-?/-? 7i c.802-3del . Hetero BRCA1 . g.87960891delT - PTEN_000001 Gonzalo Tabares-CEMA
-?/-? 7i c.802-3del . Hetero no . g.87960891delT - PTEN_000001 Gonzalo Tabares-CEMA
-?/-? 7i c.802-3del . Hetero no . g.87960891delT - PTEN_000001 Gonzalo Tabares-CEMA
-?/-? 7i c.802-3del . Hetero no . g.87960891delT - PTEN_000001 Gonzalo Tabares-CEMA
-/-? 7i c.802-3del . Hetero no . g.87960877del - PTEN_000001 Laura Vargas Roig-IMBECU
-/- 7i c.802-3del . Hetero no . g.87960877del Reclassified November 2020 PTEN_000001 Laura Vargas Roig-IMBECU
-/- 7i c.802-3dup . Hetero MLH1 . g.87960891dupT - PTEN_000003 Gonzalo Tabares-CEMA
-/- 7i c.802-3dup . Hetero MLH1 . g.87960891dupT - PTEN_000003 Gonzalo Tabares-CEMA
+/+ 8 c.823del p.(Val275*) Hetero N/A . g.87960915del - PTEN_000006 Maria Gonzalez-Hospital Italiano
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