Variant #0000754170 (NC_000007.13:g.6048650T>C, PMS2(NM_000535.6):c.1A>G)
Individual ID |
00353307 |
Chromosome |
7 |
Allele |
Parent #1 |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
NA |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.6048650T>C |
DNA change (hg38) |
- |
Published as |
chr7_6048650_T_C |
ISCN |
- |
DB-ID |
PMS2_000256 See all 15 reported entries |
Variant remarks |
the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types |
Reference |
PubMed: Dorling 2021, Journal: Dorling 2021 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
6/60466 cases |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
2.0E-5 View details |
Owner |
BRIDGES consortium |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |

Variant on transcripts
Screenings
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