Annotation Detail

Information
Associated Genes
STAT3
Associated Variants
STAT3 c.1233+43C>G ( ENST00000389272.7, ENST00000264657.10, ENST00000588969.5, ENST00000585517.5, ENST00000404395.3, ENST00000678535.1, ENST00000677002.1, ENST00000677030.1, ENST00000677152.1, ENST00000677421.1, ENST00000677442.1, ENST00000677479.1, ENST00000677603.1, 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 )
STAT3 c.1233+43C>G ( ENST00000264657.10, ENST00000389272.7, ENST00000404395.3, ENST00000585517.5, ENST00000588969.5, ENST00000677002.1, ENST00000677030.1, ENST00000677152.1, ENST00000677421.1, ENST00000677442.1, ENST00000677479.1, ENST00000677603.1, ENST00000677723.1, ENST00000678043.1, ENST00000678044.1, ENST00000678048.1, ENST00000678535.1, 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
not provided
Source Database
ClinVar
Description
NM_139276.3(STAT3):c.1233+43C>G AND not provided
ClinVar Allele ID
1225494
ClinVar RefSeq Alternation Syntax
NM_139276.3:c.1233+43C>G
ClinVar RefSeq Alternation Syntax
NM_001369513.1:c.1233+43C>G
ClinVar RefSeq Alternation Syntax
NM_001384988.1:c.1233+43C>G
ClinVar RefSeq Alternation Syntax
NM_001384992.1:c.1173+43C>G
ClinVar RefSeq Alternation Syntax
NM_001384984.1:c.1233+43C>G
ClinVar RefSeq Alternation Syntax
NM_001384991.1:c.1233+43C>G
ClinVar RefSeq Alternation Syntax
NM_001384985.1:c.1155+43C>G
ClinVar RefSeq Alternation Syntax
NM_001384993.1:c.1233+43C>G
ClinVar RefSeq Alternation Syntax
NM_001369519.1:c.1233+43C>G
ClinVar RefSeq Alternation Syntax
NM_001384990.1:c.1248+43C>G
ClinVar RefSeq Alternation Syntax
NM_001369512.1:c.1233+43C>G
ClinVar RefSeq Alternation Syntax
NM_001369517.1:c.1233+43C>G
ClinVar RefSeq Alternation Syntax
NM_001384987.1:c.1233+43C>G
ClinVar RefSeq Alternation Syntax
NM_003150.4:c.1233+43C>G
ClinVar RefSeq Alternation Syntax
NM_001384986.1:c.1248+43C>G
ClinVar RefSeq Alternation Syntax
NM_001369514.1:c.1233+43C>G
ClinVar RefSeq Alternation Syntax
NM_213662.2:c.1233+43C>G
ClinVar RefSeq Alternation Syntax
NM_001369516.1:c.1233+43C>G
ClinVar RefSeq Alternation Syntax
NM_001369520.1:c.1233+43C>G
ClinVar RefSeq Alternation Syntax
NM_001369518.1:c.1233+43C>G
ClinVar RefSeq Alternation Syntax
NM_001384989.1:c.1137+43C>G
Clinical Significance Description
Benign
Clinical Significance Last Update
2015-03-03
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001619009
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs