Full data view for gene FANCL

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

4 entries on 1 page. Showing entries 1 - 4.
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     
?/? 2 c.203G>C p.Arg68Pro Hetero no r.? - Unknown g.58229827G>C - chr2_000007 - - DNA SEQ-NG 14-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 FANCM FH FLCN GALNT12 GREM1 HOXB13 KIT LZTR1 MAX MEN1 MET MITF MLH1 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 N/A Ashkenazi Jewish - - Breast cancer, Ovarian cancer 1 Agostina Tardivo-Instituto Fleming
?/? 7 c.524C>T p.(Ala175Val) Hetero no r.? - Unknown g.58198610G>A - FANCL_000003 - - DNA SEQ-NG 27-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 Breast cancer Italian/Spanish - - Breast cancer, Colon cancer, Ovarian cancer 1 Guillermo Alberto-Instituto Fleming
?/? 12 c.1007_1009del p.(Ile336_Cys337delinsSer) Hetero no r.(?) - Unknown g.58161533_58161535del - FANCL_000001 - - DNA SEQ-NG, CNV 13-aug-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 N/A Italian - - Breast cancer, Ovarian cancer 1 Guillermo Alberto-Instituto Fleming
?/? 12 c.1007_1009del p.(Ile336_Cys337delinsSer) Hetero no r.? - Unknown g.58161533_58161535del - FANCL_000001 - - DNA SEQ-NG 03-sep-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 Ovarian cancer Sefaradí - - Breast cancer, Ovarian cancer 1 Guillermo Alberto-Instituto Fleming
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.