Full data view for gene MSH6

Information The variants shown are described using the NM_000179.2 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     
Exon     
AscendingDNA change (cDNA)     
RNA change     
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Allele     
DNA change (genomic) (hg38)     
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?/? 2 c.334A>G r.(334a>g) p.(Asn112Asp) Hetero no - Unknown g.47791000A>G - MSH6_000067 rs864622397 - DNA SEQ-NG, CNV 12-04-23 Fundación para el Progreso de la Medicina Hereditary custom cancer panel (49 genes) APC,ATM,BAP1,BARD1,BLM,BMPR1A,BRCA1,BRCA2, BRIP1,BUB1B,CDC73,CDH1,CDKN1C,CEP57,CHEK2,DICER1,DIS3L2,EPCAM,FANCC,FH,FLCN,GPC3, HNF1A,MET,MLH1,MSH2,MSH6,MUTYH,NBN,NF1,PALB2,PMS2,POLD1,POLE,PTEN,RAD50,RAD51C, RAD51D,SDHB,SDHC,SDHD,SMAD4,SMARCB1,STK11,TP53,TSC1,TSC2,VHL,WT1 Multigenetic panel Breast cancer Argentinean-unknown / German-French - - Breast cancer 1 Norma Rossi - Sanatorio Allende
?/? 2 c.334A>G r.(334a>g) p.Asn112Asp Hetero no - Unknown g.47791000A>G - MSH6_000067 rs864622397 - DNA SEQ-NG 15-aug-2023 GENOS Massive sequencing of a panel of genes related to hereditary cancer: ACD, AIP, AKT1, ALK, APC, AR, ATM, ATR, ATRX, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, CSF3R, CTNNA1, DDB2, DICER1, DIS3L2, DKC1, DLST, EGLN1, EGLN2, ELANE, EPAS1, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, G6PC3, GALNT12, GCM2, GDNF, GFI1, GPC3, GPR101, GREM1, HAX1, HNF1A, HNF1B, HOXB13, HRAS, IDH1, JAGN1, KIF1B, KIT, LZTR1, MAD2L2, MAX, MC1R, MDH2, MEN1, MET, MITF, MLH1, MLH3, MNX1, MRE11, MSH2, MSH3, MSH6, MSR1, MUTYH, NBN, NF1, NF2, NFIX, NHP2, NOP10, NSD1, NTHL1, PALB2, PARN, PDGFRA, PHOX2B, PIK3CA, PMS1, PMS2, PMS2CL, POLD1, POLE, POLH, POT1, PRCC, PRKAR1A, PRSS1, PTCH1, PTCH2, PTEN, RAD50, RAD51, RAD51C, RAD51D, RB1, RECQL, RECQL4, RET, RFWD3, RNF139, RNF43, RPS20, RTEL1, SCG5, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLC25A11, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, SRP54, STK11, SUFU, TERC, TERT, TGFBR2, TINF2, TMEM127, TP53, TSC1, TSC2, UBE2T, VHL, VPS45, WAS, WRAP53, WRN, WT1, XPA, XPC, XRCC2, XRCC3. Multigenetic panel Breast cancer Italian - - Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
?/? 2 c.334A>G r.(?) p.(Asn112Asp) Hetero no - Unknown g.47791000A>G - MSH6_000067 rs864622397 - DNA SEQ-NG, CNV 02-nov-2022 GENDA, Blueprint Genetics Blueprint Genetics Comprehensive Hereditary Cancer Flex Panel. APC, ATM, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CDKN2B, CHEK2, DICER1, DIS3L2, EPCAM, FANCC, FH, FLCN, GALNT12, HNF1B, HOXB13, KIT, MC1R, MEN1, MET, MITF, MLH1, MLH3, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NTHL1, PALB2, PMS1, PMS2, POLD1, POLE, POT1, PRSS1, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RECQL, RET, RNF43, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, STK11, SUFU, TGFBR2, TP53, TSC1, TSC2, VHL, WT1, XRC22. Multigenetic panel Astrocytoma, Endometrial cancer Argentinean/Spanish - - Colon cancer 1 Jesica Ramirez-Hospital Central de Mendoza
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