Genomic variant #0000359467

Individual ID 00155612
Chromosome 1
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.45797720C>G
DNA change (hg38) g.45332048C>G
Published as -
ISCN -
DB-ID MUTYH_000346 See all 16 reported entries
Variant remarks -
Reference contributed by Dept. of Dr Vaccaro
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Angela Solano & F Cardoso
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
MUTYH NM_001128425.1 -/. 12 c.972G>C r.(?) p.(Ser324=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000156477 DNA SEQ - - - 35 Angela Solano & F Cardoso