Variant #0000415443 (NC_000007.13:g.(?_6012870)_(6048737_?)del, PMS2(NM_000535.6):c.(?_-87)_(*160_?)del)
Individual ID |
00202216 |
Chromosome |
7 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.(?_6012870)_(6048737_?)del |
DNA change (hg38) |
- |
Published as |
c.1-?_2586+?del Whole gene deletion |
ISCN |
- |
DB-ID |
PMS2_000007 See all 10 reported entries |
Variant remarks |
- |
Reference |
PubMed: Lagerstedt-Robinson 2016 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
Kristina Lagerstedt Robinson |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
InSiGHT - John-Paul Plazzer |

Variant on transcripts
Screenings
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