Variant #0000426909 (NC_000003.11:g.37035056_37035072del, MLH1(NM_000249.3):c.18_34del)
Individual ID |
00191208 |
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.37035056_37035072del |
DNA change (hg38) |
g.36993565_36993581del |
Published as |
- |
ISCN |
- |
DB-ID |
MLH1_000029 See all 11 reported entries |
Variant remarks |
- |
Reference |
PubMed: van Puijenbroek 2008 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Michael Woods |
Database submission license |
No license selected |
Created by |
Michael Woods |

Variant on transcripts
Screenings
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