Variant #0000414608 (NC_000007.13:g.(?_6012870)_(6027252_6029430)del, PMS2(NM_000535.6):c.(1144+1_1145-1)_(*160_?)del)
Individual ID |
00200539 |
Chromosome |
7 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.(?_6012870)_(6027252_6029430)del |
DNA change (hg38) |
- |
Published as |
c.1145-?_2589+?del |
ISCN |
- |
DB-ID |
PMS2_000270 See all 4 reported entries |
Variant remarks |
del ex 11_15, 36116 nt |
Reference |
Carli Tops |
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 |
INSiGHT group |
Database submission license |
No license selected |
Created by |
INSiGHT group |

Variant on transcripts
Screenings
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