17:40468917-40468917 G > A

Classification

Category 1
CMH MAF 3 / 9594 samples (0.0313%)
3 het., 0 hom. (100%)
3 / 19188 total alleles (0.0156%)

gene: STAT3 synonym(s): APRF, HIES, STAT3, ENSG00000168610

OMIM
OMIM:102582: STAT3
OMIM:615952: Autoimmune disease, multisystem, infantile-onset, 1
OMIM:147060: Hyper-IgE recurrent infection syndrome

NM_139276.2 [CDS]
hgvs_c: NM_139276.2:c.2147C>T
reference AA: T
variant AA: M
reference codon: aCg
variant codon: aTg
cDNA pos: 2387
CDS pos: 2147
translation impact: non_synonymous
protein sequence: NP_644805.1
AA pos: 716
hgvs_p: NP_644805.1:p.Thr716Met
blosum: -1
SIFT: deleterious (0.04)
PolyPhen2: benign (0.03)

rs869312892

224848
clinvar_significance = Pathogenic
clinvar_disease = Autoimmune disease
clinvar_submission_scv = SCV000281134.1