Variant #0000012224 (NC_000005.10:g.(?), APC(NM_000038.6):c.2016_2017del)

Individual ID 00006008
Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.(?)
Reference -
DB-ID APC_000121
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Pablo Kalfayan - Consultorio Particular.
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 +/+ 15 c.2016_2017del r.(?) p.(His672Glnfs*7) Hetero MUTYH -



Screenings


AscendingScreening ID     
Template     
Technique     
Lab     
Remarks     
Date of test     
Type of test     
Genes screened     
Variants found     
Owner     
0000010235 DNA SEQ-NG;CNV GENDA ABRAXAS1, AIP, ALK, ANKRD26, APC, ATM, ATR, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRAF, BRCA1, BRCA2, BRIP1, BUB1B, CASR, CBL, CD70, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CEP57, CHEK2, CTC1, CTNNA1, CYLD, DDB2, DDX41, DICER1, DIS3L2, DKC1, EFL1, EGFR, EGLN1, ELANE, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ETV6, EXO1, EXT1, EXT2, EZH2, FAM111B, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GAA, GALNT12, GATA2, GBA, GLA, GPC3, GPR101, GREM1, HAVCR2, HDAC2, HNF1A, HNF1B, HOXB13, HRAS, IDUA, IKZF1, KIF1B, KIT, KITLG, KMT2D, KRAS, LZTR1, MAP2K1, MAP2K2, MAX, MBD4, MC1R, MDH2, MEN1, MERTK, MET, MITF, MLH1, MLH3, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NHP2, NOP10, NRAS, NSD1, NSUN2, NTHL1, PALB2, PAX5, PDGFRA, PHOX2B, PMS1, PMS2, POLD1, POLE, POLH, POT1, PPM1D, PRF1, PRKAR1A, PRSS1, PTCH1, PTCH2, PTEN, PTPN11, RAD50, RAD51C, RAD51D, RAF1, RASA2, RB1, RECQL, RECQL4, REST, RET, RHBDF2, RIT1, RNF43, RPS20, RRAS, RUNX1, SAMD9, SAMD9L, SBDS, SDHA, SDHAF2, SDHB, SDHC, SDHD, SHOC2, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, SOS1, SOS2, SPRED1, SRP72, STK11, SUFU, TERT, TGFBR2, TINF2, TMEM127, TP53, TRIP13, TSC1, TSC2, TYR, VHL, WRAP53, WRN, WT1, XPA, XPC, XRCC2, XRCC3 13-apr-2026 Multigenetic panel - 2 Pablo Kalfayan - Consultorio Particular.

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