All variants in the SMAD4 gene

Information The variants shown are described using the NM_005359.5 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Owner     
?/? 3i c.424+5G>A p.? Hetero no r.spl? - g.51048865G>A - SMAD4_000002 - - Lina Nuñez-Private Practice
?/? 3i c.424+5G>A p.? Hetero no r.spl? - g.51048865G>A - SMAD4_000002 - - Lina Nuñez-Hospital Alemán
?/? 5 c.586A>G p.(Ser196Gly) Hetero no r.(?) - g.51054912A>G - SMAD4_000003 - - Claudia Martin-Hospital de Córdoba
?/? 6 c.736C>A p.(Pro246Thr) Hetero no r.? - g.51058193C>A - SMAD4_000005 rs876659967 - Guillermo Alberto-Instituto Fleming
?/? 8 c.922C>G p.(Leu308Val) Hetero no r.(922c>g) - g.51059883C>G - SMAD4_000004 rs1383128743 - Pablo Kalfayan-Hospital Italiano
-?/- 9 c.1086T>C p.(=) Hetero no r.(=) RECLASSIFIED JULY 2022 g.51065553T>C - SMAD4_000001 - - Alvaro Yanzi-Instituto San Marcos
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