Variant #0000598677 (NC_000007.13:g.6048804G>C, PMS2(NM_000535.6):c.-154C>G)
Individual ID |
00266402 |
Chromosome |
7 |
Allele |
Unknown |
Affects function (as reported) |
Does not affect function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.6048804G>C |
DNA change (hg38) |
g.6009173G>C |
Published as |
- |
ISCN |
- |
DB-ID |
PMS2_000004 See all 9 reported entries |
Variant remarks |
- |
Reference |
- |
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 |
Carlos Vaccaro |
Database submission license |
No license selected |
Created by |
Carlos Vaccaro |

Variant on transcripts
Screenings
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