Variant #0000011778 (NC_000001.11:g.45797846G>A, MUTYH(NM_001128425.1):c.925C>T)

Individual ID 00005520
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.45797846G>A
Reference -
DB-ID MUTYH_000059 See all 4 reported entries
dbSNP ID rs138089183
Variant remarks -
Average frequency (gnomAD v.2.1.1) 0.00046 View details
Owner Guillermo Alberto-Instituto Fleming
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
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Variant on transcripts


Gene     
AscendingTranscript     
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DNA change (cDNA)     
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Co_ocurrence     
RNA change     
Review status     
MUTYH NM_001128425.1 ?/? 10 c.925C>T p.(Arg309Cys) Hetero no r.(?) -



Screenings


AscendingScreening ID     
Template     
Technique     
Lab     
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Type of test     
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Variants found     
Owner     
0000009712 DNA SEQ-NG;CNV 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 23-oct-2025 Multigenetic panel - 1 Agostina Tardivo-Instituto Fleming

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