Unique variants in the ALK gene

Information The variants shown are described using the NM_004304.4 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
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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 1 c.27C>G p.(=) Homo no r.(=) - g.29920633G>C - ALK_000004 - - Lina Nuñez-Private Practice
-/- 1 2 c.702T>A p.(=) Homo no r.(=) - g.29717663A>T - ALK_000012 - - Lina Nuñez-Private Practice
-/- 1 7 c.1500A>G p.(=) Homo no r.(=) - g.29320797T>C - ALK_000002 - - Lina Nuñez-Private Practice
?/? 1 9 c.1749T>A (p.His583Gln) Hetero no r.(1749u>a) - g.29296956A>T - ALK_000014 rs761184891 - Pablo Kalfayan-Hospital Italiano
?/? 1 9 c.1757C>A (p.Ala586Asp) Hetero no r.(1757c>a) - g.29296948G>T - ALK_000016 - - Cecilia Montes-IMGO
?/? 1 14 c.2384T>C p.(Ile795Thr) Hetero no r.(?) - g.29233668A>G - ALK_000013 - - Jesica Ramirez-Hospital Central de Mendoza
-/- 1 15 c.2535T>C p.(=) Homo no r.(=) - g.29232401A>G - ALK_000003 - - Lina Nuñez-Private Practice
-/- 1 18 c.3036G>A p.(=) Hetero no r.(=) - g.29226953C>T - ALK_000005 - - Lina Nuñez-Private Practice
?/? 1 19 c.3115G>A p.(Val1039Met) Hetero MSH6 r.(?) - g.29225518C>T - ALK_000001 - - Marina Antelo-Hospital Udaondo
?/? 1 20 c.3337C>T (p.Arg1113Trp) Hetero no r.(3337c>u) - g.29223364G>A - ALK_000018 - - Yolanda Isabel Medina - Hospital Juan D. Perón
-/- 1 21 c.3375C>A p.(=) Hetero no r.(=) - g.29222592G>T - ALK_000006 - - Lina Nuñez-Private Practice
?/? 1 27 c.4040G>A p.(Arg1347Gln) Hetero no r.(4040g>a) - g.29197575C>T - ALK_000017 rs573049471 - Cecilia Montes-IMGO
-/- 1 28i c.4165-6C>T p.(=) Hetero no r.(=) - g.29193928G>A - ALK_000007 - - Lina Nuñez-Private Practice
?/? 1 29 c.4238T>G (p.Val1413Gly) Hetero no r.(4238u>g) - g.29193849A>C - ALK_000015 rs779318085 - Pablo Kalfayan-Hospital Italiano
-/- 1 29 c.4338C>T p.(=) Hetero no r.(=) - g.29193749G>A - ALK_000008 - - Lina Nuñez-Private Practice
-/- 1 29 c.4381A>G p.(Ile1461Val) Homo no r.(?) - g.29193706T>C - ALK_000009 - - Lina Nuñez-Private Practice
-/- 1 29 c.4472A>G p.(Lys1491Arg) Hetero no r.(?) - g.29193615T>C - ALK_000010 - - Lina Nuñez-Private Practice
-/- 1 29 c.4587C>G p.(Asp1529Glu) Homo no r.(?) - g.29193500G>C - ALK_000011 - - Lina Nuñez-Private Practice
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