Variant #0000418596 (NC_000001.10:g.45810091A>G, MUTYH(NM_001128425.1):c.-216-3949T>C)

Individual ID 00202904
Chromosome 1
Allele Parent #2
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.45810091A>G
DNA change (hg38) g.45344419A>G
Published as -
ISCN -
DB-ID MUTYH_000039 See all 13 reported entries
Variant remarks NM_001128425.1(MUTYH): c.-216-3949T>C; NG_008189.1(MUTYH):g.1052T>C; NM_007170.2(TESK2):c.*421T>C; NT_032977.8:g.15782009A>G
Reference PubMed: Agalliu 2009
ClinVar ID -
dbSNP ID rs9429072
Origin Unknown
Segregation -
Frequency 78/158=49.4%
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Astrid Out
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
MUTYH NM_001128425.1 ?/. _1 c.-216-3949T>C r.(=) p.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000203935 DNA SEQ leukocyte allelic discrimination, test known variant (group) MUTYH 2 Astrid Out