Variant #0000010069 (NC_000001.11:g.45331556C>T, MUTYH(NM_001048174.1):c.1103G>A)

Individual ID 00003005
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.45331556C>T
Reference -
DB-ID MUTYH_000010 See all 24 reported entries
dbSNP ID rs36053993
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Marcela Lopez-CEMAFE
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)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
MUTYH NM_001048174.1 +/+ 13 c.1103G>A p.(Gly368Asp) Hetero BRCA1 r.(?) -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000003321 DNA SEQ-NG;CNV CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS ABRAXAS1; AIP; APC; ATM; BAP1; BARD1; BLM; BMPR1A; BRCA1; BRCA2; BRIP1; CASR; CDC73; CDH1; CDK4; CDKN1B; CDKN2A; CEBPA; CHEK2; DICER1; DIS3L2; EPCAM; 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; MRE11; MSH2; MSH3; MSH6; MUTYH; NBN; NF1; NF2; NTHL1; PALB2; PDGFRA; PHOX2B; PIK3CA; PMS2; POLD1; POLE; POT1; PRKAR1A; PTCH1; PTEN; RAD50; RAD51B; RAD51C; RAD51D; RB1; RECQL4; 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; XRCC2 25-mar-2024 Multigenetic panel - 3 Marcela Lopez-CEMAFE