View genomic variant #0000002711

Individual ID 00000325
Chromosome 1
Allele Unknown
Affects function (reported) Does not affect function
Affects function (concluded) Does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.45330597G>C
Reference -
DB-ID MUTYH_000005 See all 27 reported entries
Average frequency (large NGS studies) Variant not found in online data sets
Owner Pablo Kalfayan-Hospital Italiano




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Reference     
MUTYH NM_001048171.1 -/- 14i c.1435-40C>G p.(=) Hetero MLH1 r.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000373 DNA SEQ-NG Genia - 27-nov-2017 - EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2 21 Pablo Kalfayan-Hospital Italiano