Full data view for gene SDHB

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

9 entries on 1 page. Showing entries 1 - 9.
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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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dbSNP ID     

Variant remarks     

Template     

Technique     

Date of test     

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Type of test     

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Panel size     

Owner     
-/- 1 c.18C>A p.(=) Homo no r.(=) - Unknown g.17054002G>T - SDHB_000003 - - DNA CNV, SEQ-NG 7-may-2019 IACA - Multigenetic panel - Spanish - - - 1 Silvina Sisterna-Hospital de Comunidad
-/- 1 c.18C>A p.(=) Homo no r.(=) - Unknown g.17054002G>T - SDHB_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
?/? 1 c.23C>T p.(Ser8Phe) Hetero no r.(23c>u) - Unknown g.17053997G>A - SDHB_000005 - - DNA SEQ-NG 04-nov-2021 Genesia/Invitae Panel (36 genes) APC*, ATM*, AXIM2, BAP1. BMPR1A, BRCA1, BRCA2, CDH1, CDKN2A(p14ARF), CDKN2A(p16INK4a), CHEK2, DICER1*, EPCAM*, FH*, FLCN, GREM1*, MET*, MITF*, MLH1*, MSH2*, MSH6*, MUTYH, NBN, NTHL1, PALB2, PMS2*, POLD1*, POLE, PTEN*, SDHB, SDHD, SMAD4, STK11, TP53, TSC1* Multigenetic panel -- chilean/chilean - - - 1 Pablo Kalfayan - Consultorio Particular.
?/? 1 c.65G>C p.(Cys22Ser) Hetero no r.(?) - Unknown g.17053955C>G - SDHB_000002 - - DNA CNV, SEQ-NG 14-may-2019 Hospital Privado Centro Médico de Córdoba Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53) Multigenetic panel Breast cancer Not available - - Breast cancer, Endometrial cancer 1 Claudia Martin-Hospital de Córdoba
?/? 4 c.395A>G p.(His132Arg) Hetero no r.(395a>g) - Unknown g.17028628T>C - SDHB_000008 rs74315372 - DNA SEQ-NG, CNV 28-07-22 LACE Laboratorios Extended hereditary cancer panel (86 genes) 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*, FANCM, FANCC, FH*, FLCN, GATA2, GPC3*, GREM1*, HOXB13, HRAS, KIT, 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 Italian - Spanish - - Breast cancer 1 Cecilia Montes-IMGO
?/? 5 c.487T>C p.(Ser163Pro) Hetero BRCA2 r.(?) - Unknown g.17027802A>G - SDHB_000001 - - DNA CNV, SEQ-NG 13-aug-2019 Hospital Privado Centro Médico de Córdoba Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53) Multigenetic panel Breast cancer, Ovarian cancer Croatian - - Breast cancer, Ovarian cancer 1 Norma Rossi-Hospital de Córdoba
?/- 5 c.487T>C p.(Ser163Pro) Hetero no r.(?) RECLASSIFIED JULY 2022 Unknown g.17027802A>G - SDHB_000001 - - DNA CNV, SEQ-NG 17-apr-2020 Hospital Privado Centro Médico de Córdoba Panel breast-ovarian (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53) Multigenetic panel Thyroid cancer Italian-Argentinian - - Breast cancer, Cholangiocarcinoma, Thyroid cancer 1 Claudia Martin-Hospital de Córdoba
?/? 7 c.749C>T p.(Thr250Ile) Hetero no r.(749c>u) - Unknown g.17022624G>A - SDHB_000006 - - DNA SEQ-NG 03-apr-2022 Genia/Invitae Panel Invitae (84 genes) Multigenetic panel -- Italian/Spanish - - - 1 Pablo Kalfayan-Hospital Italiano
?/? 8 c.799A>G p.(Lys267Glu) Hetero no r.(?) - Unknown g.17018925T>C - SDHB_000004 - - DNA CNV, SEQ-NG 11-jul-2019 Invitae (deriv. Genesia) Invitae Multi-Cancer Panel (84 genes) Multigenetic panel Paraganglioma Spanish - - Paraganglioma 1 Jesica Ramirez-Hospital Central de Mendoza
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