Variant #0000005719 (NC_000007.14:g.5987522C>T, PMS2(NM_000535.5):c.1243G>A)
Individual ID |
00000798 |
Chromosome |
7 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Effect unknown |
DNA change (genomic) (Relative to hg38 / GRCh38) |
g.5987522C>T |
Reference |
- |
DB-ID |
PMS2_000027 |
dbSNP ID |
- |
Variant remarks |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Laura Vargas Roig-IMBECU |
Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
Created by |
Instituto Nacional del Cancer |
Variant on transcripts
Screenings
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