Variant #0000418479 (NC_000001.10:g.45805919G>A, MUTYH(NM_001128425.1):c.8C>T)

Individual ID 00202822
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.45805919G>A
DNA change (hg38) g.45340247G>A
Published as -
ISCN -
DB-ID MUTYH_000178 See all 3 reported entries
Variant remarks -
Reference MGZ, Munchen, DE
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Elke Holinski-Feder
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
MUTYH NM_001128425.1 ?/. 1 c.8C>T r.(=) p.(Pro3Leu) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000203853 DNA SEQ - - MUTYH 1 Elke Holinski-Feder