Variant #0000074666 (NC_000007.13:g.(?_6012870)_(6031689_6035164)del, PMS2(NM_000535.6):c.(903+1_904-1)_(*160_?)del)
Chromosome |
7 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.(?_6012870)_(6031689_6035164)del |
DNA change (hg38) |
- |
Published as |
- |
ISCN |
- |
DB-ID |
PMS2_000197 See all 4 reported entries |
Variant remarks |
Insight class: 5 |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
SUMMARY record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
InSiGHT - John-Paul Plazzer |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Julia Lopez |

Variant on transcripts
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