Variant #0000006534 (NC_000007.14:g.5995580T>C, NM_000535.5:c.857A>G (PMS2))
Individual ID |
00001028 |
Chromosome |
7 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Effect unknown |
DNA change (genomic) (Relative to hg38 / GRCh38) |
g.5995580T>C |
Reference |
- |
DB-ID |
PMS2_000023 See all 3 reported entries |
dbSNP ID |
- |
Variant remarks |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Maria Laura Gonzalez-Hospital Italiano |
Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
Created by |
Instituto Nacional del Cancer |
Date created |
2020-01-29 13:11:42 -02:00 (-02) |
Date last edited |
N/A |
Variant on transcripts
Screenings
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