Annotation Detail
Information
- Associated Genes
- STAT3
- Associated Variants
-
STAT3 c.*1853A>G
(
ENST00000678906.1,
ENST00000677479.1,
ENST00000677723.1,
ENST00000679185.1,
ENST00000678792.1,
ENST00000678913.1,
ENST00000679014.1,
ENST00000678960.1,
ENST00000678572.1,
ENST00000715205.1,
ENST00000678674.1,
ENST00000677442.1,
ENST00000264657.10,
ENST00000678048.1,
ENST00000679166.1,
ENST00000678044.1,
ENST00000678905.1,
ENST00000677421.1,
ENST00000677030.1,
ENST00000678043.1,
ENST00000678827.1 )
STAT3 c.*1853A>G ( ENST00000264657.10, ENST00000677030.1, ENST00000677421.1, ENST00000677442.1, ENST00000677479.1, ENST00000677723.1, ENST00000678043.1, ENST00000678044.1, ENST00000678048.1, ENST00000678572.1, ENST00000678674.1, ENST00000678792.1, ENST00000678827.1, ENST00000678905.1, ENST00000678906.1, ENST00000678913.1, ENST00000678960.1, ENST00000679014.1, ENST00000679166.1, ENST00000679185.1, ENST00000715205.1 ) - Associated Disease
- Hyper-IgE recurrent infection syndrome 1, autosomal dominant
- Source Database
- ClinVar
- Description
- NM_139276.3(STAT3):c.*1853A>G AND Hyper-IgE recurrent infection syndrome 1, autosomal dominant
- ClinVar Allele ID
- 345896
- ClinVar RefSeq Alternation Syntax
- NM_001369517.1:c.*1947A>G
- ClinVar RefSeq Alternation Syntax
- NM_001384990.1:c.*1947A>G
- ClinVar RefSeq Alternation Syntax
- NM_001369519.1:c.*1947A>G
- ClinVar RefSeq Alternation Syntax
- NM_001384986.1:c.*1947A>G
- ClinVar RefSeq Alternation Syntax
- NM_001369520.1:c.*1947A>G
- ClinVar RefSeq Alternation Syntax
- NM_001369513.1:c.*1853A>G
- ClinVar RefSeq Alternation Syntax
- NM_213662.2:c.*1947A>G
- ClinVar RefSeq Alternation Syntax
- NM_001369512.1:c.*1853A>G
- ClinVar RefSeq Alternation Syntax
- NM_001384989.1:c.*1853A>G
- ClinVar RefSeq Alternation Syntax
- NM_001384987.1:c.*1853A>G
- ClinVar RefSeq Alternation Syntax
- NM_001384991.1:c.*1853A>G
- ClinVar RefSeq Alternation Syntax
- NM_001384992.1:c.*1853A>G
- ClinVar RefSeq Alternation Syntax
- NM_001369516.1:c.*1853A>G
- ClinVar RefSeq Alternation Syntax
- NM_001384988.1:c.*1853A>G
- ClinVar RefSeq Alternation Syntax
- NM_001384985.1:c.*1853A>G
- ClinVar RefSeq Alternation Syntax
- NM_001369514.1:c.*1853A>G
- ClinVar RefSeq Alternation Syntax
- NM_003150.4:c.*1853A>G
- ClinVar RefSeq Alternation Syntax
- NM_001384993.1:c.*1853A>G
- ClinVar RefSeq Alternation Syntax
- NM_139276.3:c.*1853A>G
- ClinVar RefSeq Alternation Syntax
- NM_001369518.1:c.*1947A>G
- ClinVar RefSeq Alternation Syntax
- NM_001384984.1:c.*1853A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-01-13
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000367659
- ClinVar Disease
- Hyper-IgE recurrent infection syndrome 1, autosomal dominant
- Observed Origin Sample
- germline
Drugs