Variant #0000426855 (NC_000003.11:g.(?_37034841)_(37070424_37081676)del, MLH1(NM_000249.3):c.(?_-198)_(1558+1_1559-1)del)
Individual ID |
00194999 |
Chromosome |
3 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.(?_37034841)_(37070424_37081676)del |
DNA change (hg38) |
- |
Published as |
Exon 1 to Exon 13 1-?_1588+?del p.Met1Phefs*15 (reported as p.Met1_Val520>Phefs*15) |
ISCN |
- |
DB-ID |
MLH1_000013 See all 9 reported entries |
Variant remarks |
- |
Reference |
Desiree du Sart |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
INSiGHT group |
Database submission license |
No license selected |
Created by |
INSiGHT group |

Variant on transcripts
Screenings
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