Full data view for gene SDHA

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

7 entries on 1 page. Showing entries 1 - 7.
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Effect     
Exon     
AscendingDNA change (cDNA)     
Protein     
Zygosity     
Co_ocurrence     
RNA change     
Review status     
Allele     
DNA change (genomic) (hg38)     
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DB-ID     
dbSNP ID     
Variant remarks     
Template     
Technique     
Date of test     
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Type of test     
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Reference     
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Owner     
?/? 1-9 deletion exon 1 to 9 p.? Hetero no r.? - Unknown g.? - APC_000045 - - DNA SEQ-NG 22-Jun-2023 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 Italian-Spanish - - Breast cancer, Gastric cancer, Pancreatic cancer 1 Guillermo Alberto-Instituto Fleming
?/? 8 Exon 8 CNV p.? Hetero no r.? - Unknown g.? - APC_000045 - - DNA SEQ-NG 24-Jun-2025 Hospital Privado Centro Médico de Córdoba APC CDK4 FLCN NF2 RAD51D ATM CDKN2A KIT PALB2 RB1 BARD1 CHEK2 MEN1 PMS1 RET BMPR1A DICER1 MLH1 PMS2 SDHB BRCA1 EPCAM MSH2 POLD1 SDHD BRIP1 FANCA FANCC MSH6 POLE SMAD4 BUB1B FANCG MUTYH PTEN STK11 CDC73 FANCD2 NBN RAD50 TP53 CDH1 FANCM NF1 RAD51C VHL TSC1 Multigenetic panel Colorectal cancer Unknown - - Colorectal cancer 1 Virginia Miretti-Hospital de Córdoba
?/? 5 c.515C>A p.(Ala172Glu) Hetero no r.? - Unknown g.225941C>A - SDHA_000010 - - DNA SEQ-NG 10-sep-2023 GENDA, INVITAE AIP, ALK, APC*, ATM*, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A (p14ARF), CDKN2A (p16INK4a), CEBPA, CHEK2, CTNNA1, DICER1*, DIS3L2, EGFR, EPCAM*, FH*, FLCN, GATA2, GPC3*, GREM1*, HOXB13, HRAS, IT, MAX*, MEN1*, MET*, MITF*, MLH1*, MSH2*, MSH3*, MSH6*, MUTYH, NBN, NF1*, NF2, NTHL1, PALB2, PDGFRA, PHOX2B*, PMS2*, POLD1*, POLE, POT1, PRKAR1A, PTCH1, PTEN*, RAD50, RAD51C, RAD51D, RB1*, RECQL4*, RET, RUNX1, SDHA*, SDHAF2, SDHB, SDHC*, SDHD, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TERC, TERT, TMEM127, TP53, TSC1*, TSC2, VHL, WRN*, WT1. Multigenetic panel Breast cancer Spanish/Spanish - - Breast cancer 1 Marcela Lopez - Instituto Donna
?/? 8 c.1000G>A p.(Ala334Thr) Hetero no r.? - Unknown g.233581G>A - SDHA_000009 rs1401459296 - DNA SEQ-NG 14-aug-2024 CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS ABRAXAS1, ACD, AIP, AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, CTRC, DDB2, DICER1, DIS3L2, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GALNT12, GATA2, GPC3, GREM1, HOXB13, KIF1B, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NSD1, NTHL1, PALB2, PDGFRA, PHOX2B, PIK3CA, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RB1, RET, RHBDF2, RINT1, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, SPINK1, SPRED1, STK11, SUFU, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, WT1, XPA, XPC, XRCC2. Multigenetic panel Osteosarcoma, Parathyroid cancer Argentinean - - Osteosarcoma, Parathyroid cancer 1 Guillermo Alberto-Instituto Fleming
?/? 10 c.1352G>A (p.Arg451His) Hetero no r.? - Unknown g.236519G>A - SDHA_000011 - - DNA SEQ-NG 16-may-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, FANCMT, 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 Colon cancer Latin - - Colon cancer 1 Andres Rodriguez-Instituto Fleming
?/? 10 c.1423T>C p.(Cys475Arg) Hetero no r.? - Unknown g.236590T>C - SDHA_000008 rs781747137 - DNA SEQ-NG, CNV 06-may-2024 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 Basal cell carcinoma, Breast cancer, Chondrosarcoma Spanish/Argentinean - - Breast cancer, Ovarian cancer 1 Guillermo Alberto-Instituto Fleming
?/? 15 c.1979C>G p.(Ala660Gly) Hetero no r.? - Unknown g.256404C>G - SDHA_000006 rs191412461 - DNA SEQ-NG, CNV 11-nov-2024 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 Italian/Spanish/Argentinean - - Breast cancer, Leukemia, Lung cancer 1 Guillermo Alberto-Instituto Fleming
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