Variant #0000414325 (NC_000007.13:g.(?_6012870)_(6048737_?)del, PMS2(NM_000535.6):c.(?_-87)_(*160_?)del)
Individual ID |
00194591 |
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 |
PMS2 exon 1-15 del |
ISCN |
- |
DB-ID |
PMS2_000007 See all 10 reported entries |
Variant remarks |
- |
Reference |
PubMed: Thompson 2013; PubMed: Tomsic 2012; PubMed: Senter 2008 |
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 |
Mark Jenkins |
Database submission license |
No license selected |
Created by |
Mark Jenkins |

Variant on transcripts
Screenings
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