Variant #0000002533 (NC_000001.11:g.45330597G>C, MUTYH(NM_001048171.1):c.1435-40C>G)

Individual ID 00000295
Chromosome 1
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.45330597G>C
Reference -
DB-ID MUTYH_000005 See all 27 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Pablo Kalfayan-Hospital Italiano
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     

Affects function     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
MUTYH NM_001048171.1 -/- 14i c.1435-40C>G p.(=) Hetero no r.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000344 DNA SEQ-NG CEMIC - 11-jul-2017 - MLH1, MSH2, MSH6, MUTYH, PMS2 24 Pablo Kalfayan-Hospital Italiano