Variant #0000011156 (NC_000005.10:g.112766408_112766409insTA, APC(NM_000038.6):c.218_219insTA)

Individual ID 00004005
Chromosome 5
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.112766408_112766409insTA
Reference -
DB-ID APC_000114
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Luisina Bruno-Instituto Fleming
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
Options




Variant on transcripts


Gene     
AscendingTranscript     
Affects function     
Exon     
DNA change (cDNA)     
RNA change     
Protein     
Zygosity     
Co_ocurrence     
Review status     
APC NM_000038.6 +?/+? 3 c.218_219insTA r.(?) p.(Lys73Asnfs*6) Hetero no -



Screenings


AscendingScreening ID     
Template     
Technique     
Lab     
Remarks     
Date of test     
Type of test     
Genes screened     
Variants found     
Owner     
0000004338 DNA SEQ-NG CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS Hereditary cancer panel (NGS) — Gene panel: 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. 10-Dec-2024 Multigenetic panel - 2 Luisina Bruno-Instituto Fleming

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