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 International |
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) |

Variant on transcripts
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