Variant #0000005994 (NC_000007.14:g.5995390C>A, NC_000007.14(NM_000535.5):c.903+144G>T (PMS2))
Individual ID |
00000868 |
Chromosome |
7 |
Allele |
Unknown |
Affects function (as reported) |
Probably does not affect function |
Affects function (by curator) |
Does not affect function |
DNA change (genomic) (Relative to hg38 / GRCh38) |
g.5995390C>A |
Reference |
- |
DB-ID |
PMS2_000013 See all 2 reported entries |
dbSNP ID |
- |
Variant remarks |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Pablo Kalfayan-Hospital Italiano |
Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
Created by |
Instituto Nacional del Cancer |
Date created |
2019-06-05 15:32:55 -03:00 (-03) |
Date last edited |
2023-04-27 17:33:48 -03:00 (-03) |
Variant on transcripts
Screenings
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