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
Screenings
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