Variant #0000420725 (NC_000002.11:g.47629509_47649553del, MSH2(NM_000251.2):c.-823_1076+5984del)
Individual ID |
00195454 |
Chromosome |
2 |
Allele |
Unknown |
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.47629509_47649553del |
DNA change (hg38) |
g.47402370_47422414del |
Published as |
del ex1_6, 20045 bp |
ISCN |
- |
DB-ID |
MSH2_001604 See all 15 reported entries |
Variant remarks |
- |
Reference |
PubMed: van der Klift 2005 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Juul Wijnen |
Database submission license |
No license selected |
Created by |
Juul Wijnen |

Variant on transcripts
Screenings
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