Variant #0000578071 (NC_000006.11:g.31711970C>T, NM_002441.4:c.541C>T (MSH5))
Individual ID |
00248213 |
Chromosome |
6 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.31711970C>T |
DNA change (hg38) |
g.31744193C>T |
Published as |
- |
ISCN |
- |
DB-ID |
MSH5_000001 |
Variant remarks |
- |
Reference |
PubMed: Lhota 2016 |
ClinVar ID |
- |
dbSNP ID |
rs147515280 |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00014 View details |
Owner |
Zdenek Kleibl |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2015-12-04 13:41:45 +01:00 (CET) |
Date last edited |
2024-09-14 07:16:09 +02:00 (CEST) |

Variant on transcripts
Screenings
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