Full data view for gene MSH2

Information The variants shown are described using the NM_000251.2 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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Effect     
Exon     
AscendingDNA change (cDNA)     
RNA change     
Protein     
Zygosity     
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Allele     
DNA change (genomic) (hg38)     
Reference     
DB-ID     
dbSNP ID     
Variant remarks     
Template     
Technique     
Date of test     
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Type of test     
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Ethnic origin     
Reference     
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Panel size     
Owner     
+/+ 5i c.942+3A>T r.spl? p.? Hetero N/A - Unknown g.47414421A>T - MSH2_000004 - - DNA SEQ-NG 6-nov-2017 GENDA, COLOR Hereditary Cancer Risk Test (30 genes) Multigenetic panel Colon cancer German - - Colon cancer 1 Claudia Martin-Hospital de Córdoba
+/+ 5i c.942+3A>T r.spl? p.? Hetero N/A - Unknown g.47414421A>T - MSH2_000004 - - DNA SEQ 11-apr-2018 Domeq&, Lafage Known familial mutation - N/A German - - Lynch syndrome 1 Claudia Martin-Hospital de Córdoba
+/+ 5i c.942+3A>T r.spl? p.? Hetero N/A - Unknown g.47414421A>T - MSH2_000004 - - DNA SEQ-NG, CNV 6-nov-2017 GENDA, COLOR Hereditary Cancer Risk Test (30 genes) Multigenetic panel - Not available - (explica cuadro/antec ambos) - 1 Marina Antelo-Hospital Udaondo
+/+ 5i c.942+3A>T r.spl? p.? Hetero N/A - Unknown g.47414421A>T - MSH2_000004 - - DNA SEQ 8-sep-2017 Hospital de Gastroenterologia ", Dr. Carlos Bonorino Udaondo", - Known familial mutation - Not available - MF (explica cuadro) - 1 Marina Antelo-Hospital Udaondo
+/+ 5i c.942+3A>T r.spl? p.? Hetero N/A - Unknown g.47414421A>T - MSH2_000004 - - DNA SEQ-NG 26-jun-2019 CIBIC/Héritas Panel cáncer de colon hereditario Héritas (14 genes) APC,ATM,BMPR1A,CHEK2, EPCAM,MLH1,MSH2,MSH6,MUTYH,PMS2,PTEN,SMAD4,STK11,TP53 Multigenetic panel - German/Aborigen - - - 1 Marcela Lopez-CEMAFE
+/+ 5i c.942+3A>T r.spl? p.? Hetero no - Unknown g.47414421A>T - MSH2_000004 - - DNA SEQ-NG 11-Apr-2025 CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS Hereditary cancer, multigene NGS panel — Gene panel: ACD, AIP, AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FANCA, FANCC, FANCL, FANCM, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PIK3CA, PMS2, POLD1, POLE, POT1, PTEN, RAD50, RAD51B, RAD51C, RAD51D, RB1, RET, RINT1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SPRED1, STK11, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2 Multigenetic panel Cholangiocarcinoma, Colorectal cancer Italian - - Colon cancer 1 Guillermo Alberto-Instituto Fleming
+/+ 5i c.942+3A>T r.? p.? Hetero no - Unknown g.47414421A>T - MSH2_000004 - - DNA SEQ 30-jun-2025 GENOS NM_000251.3:c.942+3A>, T MSH2 Known familial mutation Cholangiocarcinoma, Colorectal cancer Italian - - Colon cancer 1 Guillermo Alberto-Instituto Fleming
+/+ 5i c.942+3A>T r.spl? p.? Hetero no - Unknown g.47414421A>T - MSH2_000004 - - DNA SEQ-NG 11-apr-2025 CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS ACD, AIP, AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FANCA, FANCC, FANCL, FANCM, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PIK3CA, PMS2, POLD1, POLE, POT1, PTEN, RAD50, RAD51B, RAD51C, RAD51D, RB1, RET, RINT1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SPRED1, STK11, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2. Multigenetic panel Breast cancer, Ovarian cancer Chilean - - Breast cancer, Ovarian cancer 1 Guillermo Alberto-Instituto Fleming
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