Variant #0000405276 (NC_000001.10:g.114377568A>G, NM_015967.5:c.1858T>C (PTPN22))
Individual ID |
00180643 |
Chromosome |
1 |
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.114377568A>G |
DNA change (hg38) |
g.113834946A>G |
Published as |
- |
ISCN |
- |
DB-ID |
PTPN22_000002 See all 9 reported entries |
Variant remarks |
for details see the Uveogene database Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. |
Reference |
PubMed: Wallace 2007 |
ClinVar ID |
- |
dbSNP ID |
rs2476601 |
Origin |
Germline |
Segregation |
- |
Frequency |
563/738 cases |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.9285 View details |
Owner |
Peizeng Yang |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2018-09-07 14:35:38 +02:00 (CEST) |
Date last edited |
2018-10-01 01:05:03 +02:00 (CEST) |

Variant on transcripts
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