Variant #0000433116 (NC_000003.11:g.37034841_37042544del, MLH1(NM_000249.3):c.(?_-198)_306+?del)
Individual ID |
00201873 |
Chromosome |
3 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.37034841_37042544del |
DNA change (hg38) |
- |
Published as |
1-?_306+?del Deletion exons 1–3 |
ISCN |
- |
DB-ID |
MLH1_002063 See all 3 reported entries |
Variant remarks |
Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. |
Reference |
PubMed: Lagerstedt-Robinson 2016 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Kristina Lagerstedt Robinson |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
InSiGHT - John-Paul Plazzer |

Variant on transcripts
Screenings
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