Unique variants in the PTEN gene

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

10 entries on 1 page. Showing entries 1 - 10.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Owner     
?/? 1 ? c.-904_-883dup p.(?) Hetero no r.? - g.87863566_87863587dup - PTEN_000010 rs786204888 - Cecilia Montes-IMGO
?/? 2 8 c.-6C>A . Hetero no . - g.87864464C>A - PTEN_000002 - - Gonzalo Tabares-CEMA
?/? 1 5'UTR c.-869G>C . Hetero no . - g.87863601G>C - PTEN_000007 - - Norma Rossi-Hospital de Córdoba
?/? 1 9 c.1187A>G p.(Gln396Arg) Hetero no . - g.87965447A>G - PTEN_000008 - - Norma Rossi-Hospital de Córdoba
+/+ 1 1 c.49C>T p.(Gln17*) Hetero N/A . - g.87864518C>T - PTEN_000005 - - Rossana Espindola-Instituto de Genetica Humana
+/+ 1 6 c.635-2A>C . Hetero N/A . - g.87957851A>C - PTEN_000004 - - Cecilia Montes-Hospital de Niños de la Santísima Trinidad
+/+ 1 7 c.702_703delinsC p.(Glu235Lysfs*21) Hetero N/A . - g.87957920_87957921delinsC - PTEN_000009 - - Claudia Martin-Hospital de Córdoba
-/-?, -?/-?, -/- 7 7i c.802-3del . Hetero no, BRCA1 . RECLASSIFIED NOVEMBER 2020 g.87960877del, g.87960891delT - PTEN_000001 - - Laura Vargas Roig-IMBECU, Gonzalo Tabares-CEMA, Alejandra Mampel-Hospital Universitario de Mendoza
-/- 2 7i c.802-3dup . Hetero MLH1 . - g.87960891dupT - PTEN_000003 - - Gonzalo Tabares-CEMA
+/+ 1 8 c.823del p.(Val275*) Hetero N/A . - g.87960915del - PTEN_000006 - - Maria Laura Gonzalez-Hospital Italiano
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