Variant #0000428063 (NC_000003.11:g.37034946G>A, NM_000249.3:c.-93G>A (MLH1))

Individual ID 00188815
Chromosome 3
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.37034946G>A
DNA change (hg38) g.36993455G>A
Published as -
ISCN -
DB-ID MLH1_001761 See all 76 reported entries
Variant remarks Authors describe this variant as being associated with an increased colorectal cancer risk in MSI-H tumors.
Reference PubMed: Campbell 2008
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Michael Woods
Database submission license No license selected
Created by Michael Woods
Date created 2008-12-10 12:00:00 +01:00 (CET)
Date last edited 2019-02-20 13:06:39 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MLH1 NM_000249.3 ?/. 1 c.-93G>A r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000189784 DNA ? - - MLH1 2 Michael Woods


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