Variant #0000405313 (NC_000001.10:g.65333857G>C, NC_000001.10(NM_002227.2):c.648-966C>G (JAK1))
Individual ID |
00180680 |
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.65333857G>C |
DNA change (hg38) |
g.64868174G>C |
Published as |
- |
ISCN |
- |
DB-ID |
JAK1_000005 |
Variant remarks |
for details see the Uveogene database |
Reference |
PubMed: Yang 2013 |
ClinVar ID |
- |
dbSNP ID |
rs310236 |
Origin |
Germline |
Segregation |
- |
Frequency |
440/1474 cases |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
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 |
2018-09-07 15:00:54 +02:00 (CEST) |

Variant on transcripts
Screenings
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