Full data view for gene TSC1

Information The variants shown are described using the NM_000368.4 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
Legend   How to query  

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     
?/? 11 c.1139C>T p.(Thr380Ile) Hetero no r.(?) - Unknown g.132911004G>A - TSC1_000006 - - DNA SEQ-NG 17-may-2021 CIBIC/Héritas ", Panel Héritas (60 genes) ATM, APC, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, GREM1, HOXB13, MLH1, MSH2, MSH3, MSH6, MUTYH , NBN, NF1, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53, BAP1, DICER1, FANCC, FANCM, FH, FLCN, BLM, GALNT12, KIT, MEN1, MET, MITF, MRE11A, NF2, RAD50, RB1, RECQL4, RET, RINT1, SDHA, SDHB, SDHC, SDHD, SMARCA4, TSC1, TSC2, VHL, XRCC2. ", Multigenetic panel - Spanish; Spanish - - - 1 Marcela Lopez-CEMAFE
?/? 11 c.1139C>T p.(Thr380Ile) Hetero no r.? - Unknown g.132911004G>A - TSC1_000006 rs1064796512 - DNA SEQ-NG 23-aug-2024 TRILAB 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, MSH6, MSH3, 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 Rectal cancer Spanish/spanish - - Rectal cancer 1 Marcela Lopez - Instituto Donna
?/? 11 c.1139C>T p.(Thr380Ile) Hetero no r.? - Unknown g.132911004G>A - TSC1_000006 rs1064796512 - DNA SEQ-NG 13-sep-2023 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 Breast cancer Spanish/Spanish - - Breast cancer 1 Marcela Lopez-CEMAFE
Legend   How to query  

  Powered by LOVD v.3.0 Build 29
LOVD software ©2004-2023 Leiden University Medical Center 		There is an LOVD update available.