Variant #0000731245 (NC_000012.11:g.80839357G>A, NM_001145026.2:c.250G>A (PTPRQ))
Chromosome |
12 |
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.80839357G>A |
DNA change (hg38) |
g.80445577G>A |
Published as |
- |
ISCN |
- |
DB-ID |
PTPRQ_000092 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
rs866361668 |
Origin |
CLASSIFICATION record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
MobiDetails |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
MobiDetails |
Date created |
2021-02-17 17:12:01 +01:00 (CET) |
Date last edited |
2023-11-08 15:46:10 +01:00 (CET) |

Variant on transcripts
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