Variant #0000439057 (NC_000001.10:g.45805925A>G, MUTYH(NM_001128425.1):c.2T>C)

Individual ID 00207947
Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.45805925A>G
DNA change (hg38) g.45340253A>G
Published as -
ISCN -
DB-ID MUTYH_000360 See all 3 reported entries
Variant remarks ACMG grading: PM2,PVS1; CRC at age 42y, clinical poyposis, IHC: all 4 MMR genes axpressed, MSS
Reference -
ClinVar ID -
dbSNP ID rs865954220
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Andreas Laner
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
MUTYH NM_001128425.1 +?/. - c.2T>C r.(?) p.Met1? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000208992 DNA SEQ-NG - - - 2 Andreas Laner