Variant #0000428058 (NC_000003.11:g.37034770C>G, MLH1(NM_000249.3):c.-269C>G)
Individual ID |
00189322 |
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.37034770C>G |
DNA change (hg38) |
g.36993279C>G |
Published as |
-269C>G |
ISCN |
- |
DB-ID |
MLH1_000002 See all 14 reported entries |
Variant remarks |
- |
Reference |
PubMed: Zavodna 2006 |
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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