Variant #0000428291 (NC_000003.11:g.[37049179_37051317delinsTG;37051667_37054327delinsCA], MLH1(NM_000249.3):c.[453+625_545+921delinsTG;545+1271_677+737delinsCA])
Individual ID |
00194196 |
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.[37049179_37051317delinsTG;37051667_37054327delinsCA] |
DNA change (hg38) |
- |
Published as |
Del Exon 6-8;g.157346_159484del2139;g.157344_157345dupTG;g.159834_162494del2661;g.162494_162495insCA |
ISCN |
- |
DB-ID |
MLH1_001305 See all 3 reported entries |
Variant remarks |
- |
Reference |
PubMed: Li 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 |
Michael Woods |
Database submission license |
No license selected |
Created by |
Michael Woods |

Variant on transcripts
Screenings
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