Variant #0000428061 (NC_000003.11:g.37034946G>A, NM_000249.3:c.-93G>A (MLH1))

Individual ID 00188782
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 unlikely contributing to CRC risk. However the MLH1 block was found to be significantly different between cases and controls. See supplementary tables.
Reference PubMed: Koessler 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 2008-12-11 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     
0000189751 DNA ? - - MLH1 2 Michael Woods


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.