Full data view for gene ALK

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

19 entries on 1 page. Showing entries 1 - 19.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     

Allele     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Template     

Technique     

Date of test     

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Remarks     

Type of test     

Disease     

Ethnic origin     

Reference     

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Cuadro familiar     

Panel size     

Owner     
-/- 1 c.27C>G p.(=) Homo no r.(=) - Unknown g.29920633G>C - ALK_000004 - - DNA CNV, SEQ-NG 27-nov-2019 Invitae (deriv. Genesia) Invitae Multi-Cancer Panel (84 genes) Multigenetic panel Colon cancer Spanish-Italian - - Colon cancer 1 Lina Nuñez-Private Practice
-/- 2 c.702T>A p.(=) Homo no r.(=) - Unknown g.29717663A>T - ALK_000012 - - DNA CNV, SEQ-NG 27-nov-2019 Invitae (deriv. Genesia) Invitae Multi-Cancer Panel (84 genes) Multigenetic panel Colon cancer Spanish-Italian - - Colon cancer 1 Lina Nuñez-Private Practice
-/- 7 c.1500A>G p.(=) Homo no r.(=) - Unknown g.29320797T>C - ALK_000002 - - DNA CNV, SEQ-NG 27-nov-2019 Invitae (deriv. Genesia) Invitae Multi-Cancer Panel (84 genes) Multigenetic panel Colon cancer Spanish-Italian - - Colon cancer 1 Lina Nuñez-Private Practice
?/? 9 c.1749T>A (p.His583Gln) Hetero no r.(1749u>a) - Unknown g.29296956A>T - ALK_000014 rs761184891 - DNA SEQ-NG 07-11-22 Dasa Genómica - Genia, INVITAE Invitae Multi-cancer panel (84 genes) Multigenetic panel Colon cancer Italian/spanish/irish/french - spanish/italian - - Colon cancer, Gastric cancer 1 Pablo Kalfayan-Hospital Italiano
?/? 9 c.1757C>A (p.Ala586Asp) Hetero no r.(1757c>a) - Unknown g.29296948G>T - ALK_000016 - - DNA SEQ-NG 01-04-22 INVITAE Invitae Multi-Cancer Panel (84 genes) Multigenetic panel N/A Spanish/Swiss - French/French - - Breast cancer, Ovarian cancer 1 Cecilia Montes-IMGO
?/? 14 c.2384T>C p.(Ile795Thr) Hetero no r.(?) - Unknown g.29233668A>G - ALK_000013 - - DNA SEQ-NG 02-mar-2021 Invitae Panel Invitae Multi-cáncer Multigenetic panel Ovarian cancer Spanish - - Ovarian cancer 1 Jesica Ramirez-Hospital Central de Mendoza
-/- 15 c.2535T>C p.(=) Homo no r.(=) - Unknown g.29232401A>G - ALK_000003 - - DNA CNV, SEQ-NG 27-nov-2019 Invitae (deriv. Genesia) Invitae Multi-Cancer Panel (84 genes) Multigenetic panel Colon cancer Spanish-Italian - - Colon cancer 1 Lina Nuñez-Private Practice
-/- 18 c.3036G>A p.(=) Hetero no r.(=) - Unknown g.29226953C>T - ALK_000005 - - DNA CNV, SEQ-NG 27-nov-2019 Invitae (deriv. Genesia) Invitae Multi-Cancer Panel (84 genes) Multigenetic panel Colon cancer Spanish-Italian - - Colon cancer 1 Lina Nuñez-Private Practice
?/? 19 c.3115G>A p.(Val1039Met) Hetero MSH6 r.(?) - Unknown g.29225518C>T - ALK_000001 - - DNA SEQ-NG, CNV 24-may-2019 Genesia - Progenitest, INVITAE Invitae Multi-Cancer Panel (83 genes) Multigenetic panel - Not available - CIA (antec ambos/explica cuadro) - 1 Marina Antelo-Hospital Udaondo
?/? 20 c.3337C>T (p.Arg1113Trp) Hetero no r.(3337c>u) - Unknown g.29223364G>A - ALK_000018 - - DNA SEQ-NG 28-12-22 GENDA, INVITAE Multi Cancer Panel (84 genes) Multigenetic panel Breast cancer Argentinean - Paraguaian - - Breast cancer 1 Yolanda Isabel Medina - Hospital Juan D. Perón
-/- 21 c.3375C>A p.(=) Hetero no r.(=) - Unknown g.29222592G>T - ALK_000006 - - DNA CNV, SEQ-NG 27-nov-2019 Invitae (deriv. Genesia) Invitae Multi-Cancer Panel (84 genes) Multigenetic panel Colon cancer Spanish-Italian - - Colon cancer 1 Lina Nuñez-Private Practice
?/? 21 c.3445G>C p.(Val1149Leu) Hetero no r.? - Unknown g.29222522C>G - ALK_000019 rs1669832449 - DNA SEQ-NG 20-mar-2024 Dasa Genómica - Genia Hereditary Cancer Panel (GeneOne) (144 genes) AIP, ALK, APC, ATM, ATR, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1B, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CEP57, CHEK2, CTC1, CTNNA1, CYLD, DDB2, DICER1, DIS3L2, DKC1, EGFR, EGLN1, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, EXT1, EXT2, EZH2, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GAA, GALNT12, GATA2, GBA, GLA, GPC3, GREM1, HDAC2, HNF1A, HOXB13, HRAS, IDUA, KIF1B, KIT, KMT2D, LZTR1, MAX, MC1R, MDH2, MEN1, MERTK, MET, MITF, MLH1, MLH3, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NHP2, NOP10, NSD1, NTHL1, PALB2, PDGFRA, PHOX2B, PMS1, PMS2, PMS2CL, POLD1, POLE, POLH, POT1, PRF1, PRKAR1A, PRSS1, PTCH1, PTCH2, PTEN, RAD50, RAD51C, RAD51D, RB1, RECQL4, RET, RHBDF2, RUNX1, SBDS, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TERC, TERT, TINF2, TMEM127, TP53, TSC1, TSC2, TYR, VHL, WRAP53, WRN, WT1, XPA, XPC, XRCC2. Multigenetic panel Kidney cancer Italian/Italian - - Kidney cancer 1 Pablo Kalfayan-Hospital Italiano
?/? 27 c.4040G>A p.(Arg1347Gln) Hetero no r.(4040g>a) - Unknown g.29197575C>T - ALK_000017 rs573049471 - DNA SEQ-NG 30-09-22 Dasa Genómica - Genia AIP, ALK, APC, ATM, ATR, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1B, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CEP57, CHEK2, CTC1, CTNNA1, CYLD, DDB2, DICER1, DIS3L2, DKC1, EGFR, EGLN1, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, EXT1, EXT2, EZH2, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GAA, GALNT12, GATA2, GBA, GLA, GPC3, GREM1, HDAC2, HNF1A, HOXB13, HRAS, IDUA, KIF1B, KIT, KMT2D, LZTR1, MAX, MC1R, MDH2, MEN1, MERTK, MET, MITF, MLH1, MLH3, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NHP2, NOP10, NSD1, NTHL1, PALB2, PDGFRA, PHOX2B, PMS1, PMS2, PMS2CL, POLD1, POLE, POLH, POT1, PRF1, PRKAR1A, PRSS1, PTCH1, PTCH2, PTEN, RAD50, RAD51C, RAD51D, RB1, RECQL4, RET, RHBDF2, RUNX1, SBDS, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TERC, TERT, TINF2, TMEM127, TP53, TSC1, TSC2, TYR, VHL, WRAP53, WRN, WT1, XPA, XPC, XRCC2. Multigenetic panel Breast cancer Spanish - Italian/Spanish - - Breast cancer 1 Cecilia Montes-IMGO
-/- 28i c.4165-6C>T p.(=) Hetero no r.(=) - Unknown g.29193928G>A - ALK_000007 - - DNA CNV, SEQ-NG 27-nov-2019 Invitae (deriv. Genesia) Invitae Multi-Cancer Panel (84 genes) Multigenetic panel Colon cancer Spanish-Italian - - Colon cancer 1 Lina Nuñez-Private Practice
?/? 29 c.4238T>G (p.Val1413Gly) Hetero no r.(4238u>g) - Unknown g.29193849A>C - ALK_000015 rs779318085 - DNA SEQ-NG 07-11-22 Dasa Genómica - Genia, INVITAE Invitae Multi-cancer panel (84 genes) Multigenetic panel Colon cancer Italian/spanish/irish/french - spanish/italian - - Colon cancer, Gastric cancer 1 Pablo Kalfayan-Hospital Italiano
-/- 29 c.4338C>T p.(=) Hetero no r.(=) - Unknown g.29193749G>A - ALK_000008 - - DNA CNV, SEQ-NG 27-nov-2019 Invitae (deriv. Genesia) Invitae Multi-Cancer Panel (84 genes) Multigenetic panel Colon cancer Spanish-Italian - - Colon cancer 1 Lina Nuñez-Private Practice
-/- 29 c.4381A>G p.(Ile1461Val) Homo no r.(?) - Unknown g.29193706T>C - ALK_000009 - - DNA CNV, SEQ-NG 27-nov-2019 Invitae (deriv. Genesia) Invitae Multi-Cancer Panel (84 genes) Multigenetic panel Colon cancer Spanish-Italian - - Colon cancer 1 Lina Nuñez-Private Practice
-/- 29 c.4472A>G p.(Lys1491Arg) Hetero no r.(?) - Unknown g.29193615T>C - ALK_000010 - - DNA CNV, SEQ-NG 27-nov-2019 Invitae (deriv. Genesia) Invitae Multi-Cancer Panel (84 genes) Multigenetic panel Colon cancer Spanish-Italian - - Colon cancer 1 Lina Nuñez-Private Practice
-/- 29 c.4587C>G p.(Asp1529Glu) Homo no r.(?) - Unknown g.29193500G>C - ALK_000011 - - DNA CNV, SEQ-NG 27-nov-2019 Invitae (deriv. Genesia) Invitae Multi-Cancer Panel (84 genes) Multigenetic panel Colon cancer Spanish-Italian - - Colon cancer 1 Lina Nuñez-Private Practice
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