Variant #0000426856 (NC_000003.11:g.(?_37034841)_(37083823_37089009)del, MLH1(NM_000249.3):c.(?_-198)_(1731+1_1732-1)del)
Individual ID |
00188792 |
Chromosome |
3 |
Allele |
Parent #1 |
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)_(37083823_37089009)del |
DNA change (hg38) |
- |
Published as |
Deletion of Exon 1-15 |
ISCN |
- |
DB-ID |
MLH1_001614 See all 8 reported entries |
Variant remarks |
- |
Reference |
PubMed: Pistorius 2007 |
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 |
Michael Woods |

Variant on transcripts
Screenings
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