Variant #0000420671 (NC_000002.11:g.47630141C>T, MSH2(NM_000251.2):c.-190C>T)
Individual ID |
00195403 |
Chromosome |
2 |
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.47630141C>T |
DNA change (hg38) |
g.47403002C>T |
Published as |
- |
ISCN |
- |
DB-ID |
MSH2_001054 See all 3 reported entries |
Variant remarks |
Authors describe this as a gene regulation defect |
Reference |
PubMed: Shin 2004 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Michael Woods |
Database submission license |
No license selected |
Created by |
Michael Woods |

Variant on transcripts
Screenings
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