Variant #0000129642 (NC_000002.11:g.191859931G>A, NM_007315.3:c.800C>T (STAT1))
Individual ID |
00080587 |
Chromosome |
2 |
Allele |
Parent #1 |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Effect unknown |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.191859931G>A |
DNA change (hg38) |
g.190995205G>A |
Published as |
- |
ISCN |
- |
DB-ID |
STAT1_000008 See all 13 reported entries |
Variant remarks |
gain-of-function (GOF) variant |
Reference |
PubMed: Liu 2011, OMIM:var0009 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2012-08-13 16:50:19 +02:00 (CEST) |
Date last edited |
2013-10-23 10:52:08 +02:00 (CEST) |

Variant on transcripts
Screenings
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