Full data view for gene SDHC

Information The variants shown are described using the NM_003001.3 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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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     
Lab     
Remarks     
Type of test     
Disease     
Ethnic origin     
Reference     
Remarks     
Cuadro familiar     
Panel size     
Owner     
+/+ 1 c.1A>G p.Met1Val Hetero no r.? - Unknown g.161314406A>G - chr1_000010 - - DNA SEQ-NG 28-jan-2025 Laboratorio Central ACD, AIP, AKT1, APC, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA1_5UTR, BRCA2, BRCA2_5UTR, BRIP1, CASR, CDH1, CDKN1B, CDKN2A, CDK4, CTRC, DDB2, DICER1, DIS3L2, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, FAM175A, FANCA, FANCB, FANCC, FANCI, FANCL, FANCM, FANCF, FANCE, FLCN, FH, GALNT12, GATA2, GREM1, HOXB13, KIT, KIF1B, LZTR1, MAX, MEN1, MET, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NSD1, NTHL1, PALB2, PDGFRA, PIK3CA, PMS2, POLE, POT1, PRKAR1A, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RECQL4, RET, RHBDF2, RINT1, RUNX1, SDHA, SDHB, SDHC, SDHD, SDHAF2, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, SPINK1, SPRED1, SRY, SUFU, TERT, TERF2IP, TMEM127, TSC1, TSC2, TP53, VHL, WT1, XPA, XPC, XRCC2, ZMYM3. Multigenetic panel Colonic Polyposis, Desmoid tumor, Fibroma Unkown / European-Argentinean - - Colon cancer, Colonic polyps, Desmoid tumor 1 Norma Rossi - Sanatorio Allende
?/? 1 c.8C>T p.(Ala3Val) Hetero no r.(8c>u) - Unknown g.161314413C>T - SDHC_000002 - - DNA SEQ-NG 13-feb-2022 Genia/Invitae Invitae Common Hereditary Cancer Panel (47 genes) APC*, ATM*, AXIN2, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A(p14ARF), CDKN2A(p.16INK4a), CHEK2, CTNNA1, DICER1*, EPCAM*, GREM1*, HOXB13, KIT, MEN1*, MLH1*, MSH2*, MSH3*, MSH6*, MUTYH, NBN, NF1*, NTHL1, PALB2, PDGFRA, PMS2*, POLD1*, POLE, PTEN*, RAD50, RAD51C, RAD51D, SDHA*, SDHB, SDHC*, SDHD, SMAD4, SMARCA4, STK11, TP53, TSC1*, TSC2, VHL. Multigenetic panel -- Italian/Italian - - - 1 Pablo Kalfayan-Hospital Italiano
?/? 3 c.113T>C p.(Met38Thr) Hetero no r.(?) - Unknown g.161328431T>C - SDHC_000001 - - DNA CNV, SEQ-NG 12-nov-2019 Invitae (deriv. CEG) Invitae Multi-Cancer Panel (84 genes) Multigenetic panel - Unknown - - - 1 Dolores Mansilla-Instituto Roffo
?/? 3 c.114G>C p.(Met38Ile) Hetero no r.? - Unknown g.161328432G>C - SDHC_000003 rs868556406 - DNA SEQ-NG, CNV 22-apr-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 Unknown - - Breast cancer, Endometrial cancer 1 Guillermo Alberto-Instituto Fleming
?/? 3 c.119G>A p.(Arg40Gln) Hetero no r.? - Unknown g.161328437G>A - SDHC_000004 rs772450693 - DNA SEQ-NG, CNV 29-apr-2024, 10-jun-2025, 22-oct-2025 CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS HEREDITARY CANCER SYNDROME (78 genes) 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., 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 MRE11 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, 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, Colon cancer, Melanoma, Ovarian cancer Spanish - - Colon cancer, Ovarian cancer 1 Guillermo Alberto-Instituto Fleming
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