Variant #0000752774 (NC_000003.11:g.37035103G>C, MLH1(NM_000249.3):c.65G>C)
Individual ID |
00351911 |
Chromosome |
3 |
Allele |
Parent #1 |
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.37035103G>C |
DNA change (hg38) |
- |
Published as |
chr3_37035103_G_C |
ISCN |
- |
DB-ID |
MLH1_001732 See all 23 reported entries |
Variant remarks |
the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types |
Reference |
PubMed: Dorling 2021, Journal: Dorling 2021 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
33/60466 cases |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00012 View details |
Owner |
BRIDGES consortium |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |

Variant on transcripts
Screenings
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