Variant #0000434649 (NC_000003.11:g.37053590G>A, NM_000249.3:c.677G>A (MLH1))

Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification NA
DNA change (genomic) (Relative to hg19 / GRCh37) g.37053590G>A
DNA change (hg38) g.37012099G>A
Published as -
ISCN -
DB-ID MLH1_001558 See all 71 reported entries
Variant remarks affected splicing (Fig 1A and 1B, S1 Table) in an in vivo minigene assay and in an in vitro splicing assay. ESR wt/mt difference:-2.5404582. Significant in MaPSy
Reference PubMed: Rhine 2018
ClinVar ID -
dbSNP ID -
Origin In vitro (cloned)
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner InSiGHT - John-Paul Plazzer
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by InSiGHT - John-Paul Plazzer
Date created 2018-03-25 01:19:13 +01:00 (CET)
Date last edited 2019-02-20 13:06:39 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MLH1 NM_000249.3 +/. - c.677G>A r.(?) p.(Arg226Gln)


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