Variant #0000418459 (NC_000001.10:g.?, MUTYH(NM_001128425.1):c.?G>A)

Individual ID 00202806
Chromosome 1
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.?
DNA change (hg38) -
Published as 1082G>A (Arg350His)
ISCN -
DB-ID MUTYH_000000 See all 3 reported entries
Variant remarks PolyPhen PSIC 1.6 possibly damaging
Reference MGZ, Munchen, DE
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Elke Holinski-Feder




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
MUTYH NM_001128425.1 ?/. 12 c.?G>A r.(?) p.(?) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000203837 DNA SEQ - - MUTYH 2 Elke Holinski-Feder