Variant #0000474860 (NC_000003.11:g.(?_37034841)_(37042545_37045891)del, MLH1(NM_000249.3):c.(?_-198)_(306+1_307-1)del)
Individual ID |
00231355 |
Chromosome |
3 |
Allele |
Maternal (inferred) |
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)_(37042545_37045891)del |
DNA change (hg38) |
- |
Published as |
c.1_306del |
ISCN |
- |
DB-ID |
MLH1_000946 See all 6 reported entries |
Variant remarks |
Insight class: 5 |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline/De novo (untested) |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Grigorij Yanus |
Database submission license |
No license selected |
Created by |
Grigorij Yanus |

Variant on transcripts
Screenings
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