Variant #0000426723 (NC_000003.11:g.37034562T>C, MLH1(NM_000249.3):c.-477T>C)
Individual ID |
00188542 |
Chromosome |
3 |
Allele |
Maternal (confirmed) |
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.37034562T>C |
DNA change (hg38) |
g.36993071T>C |
Published as |
EPM2AIP1 7A>G p.Met3Val (MLH1 -477T>C not in 5`UTR) |
ISCN |
- |
DB-ID |
MLH1_001802 |
Variant remarks |
EPM2AIP1 biallelic in c.7A>G p.Met3Val, MLH1 without informative SNPs |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0 View details |
Owner |
Elke Holinski-Feder |
Database submission license |
No license selected |
Created by |
Elke Holinski-Feder |

Variant on transcripts
Screenings
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