Genomic variant #0000418383

Individual ID 00202764
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.45804050C>T
DNA change (hg38) -
Published as IVS1+1520 A/G (beta transcript); NM_001048174.1: -7+1521G>A (beta transcript)
ISCN -
DB-ID MUTYH_000164 See all 2 reported entries
Variant remarks -
Reference PubMed: Yamaguchi 2002
ClinVar ID -
dbSNP ID rs3219472
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Astrid Out




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     
MUTYH NM_001128425.1 ?/. 1i c.36+1841G>A VUS r.(=) p.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000203795 DNA SEQ - - MUTYH 1 Astrid Out