ClinVar Genomic variation as it relates to human health
NM_005419.4(STAT2):c.1301C>G (p.Thr434Arg)
Germline
Classification
(1)
Likely risk allele
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
STAT2 | - | - |
GRCh38 GRCh37 |
459 | 469 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely risk allele (1) |
|
Jul 1, 2022 | RCV003120371.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023