Variant #0000179006 (NC_000002.11:g.47605142_47627978del, MSH2(NM_000251.2):c.-25189_-2353del)
Individual ID |
00111383 |
Chromosome |
2 |
Allele |
Parent #1 |
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.47605142_47627978del |
DNA change (hg38) |
g.47378003_47400839del |
Published as |
c.555+894_*14194del |
ISCN |
- |
DB-ID |
EPCAM_000002 See all 2 reported entries |
Variant remarks |
linked family, 22.8 Kb deletion; fusion transcript EPCAM/MSH2; MSH2 promoter methylation; haplotype differs from FamHK-A |
Reference |
PubMed: Ligtenberg 2009 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |

Variant on transcripts
Screenings
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