Variant #0000433506 (NC_000003.11:g.37034997C>T, MLH1(NM_000249.3):c.-42C>T)

Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification NA
DNA change (genomic) (Relative to hg19 / GRCh37) g.37034997C>T
DNA change (hg38) g.36993506C>T
Published as -
ISCN -
DB-ID MLH1_001591 See all 9 reported entries
Variant remarks Reporter assay in human cell lines: wild-type or variant promoter (c.-513 to c.-1) cloned in Firefly luciferase reporter in the pGL3-Basic vector (Promega) 55% and 84% activity relative to wild-type promoter in HCT116 and HEK293 cells, respectively.
Reference PubMed: Ward (2013)
ClinVar ID -
dbSNP ID -
Origin In vitro (cloned)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 5.0E-5 View details
Owner Robyn Ward
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by InSiGHT - John-Paul Plazzer
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MLH1 NM_000249.3 ?/. 1 c.-42C>T r.(?) p.(=)