Annotation Detail

Information
Associated Genes
GATA3
Associated Variants
GATA3 c.779-1748C>A ( ENST00000346208.4, ENST00000379328.9 )
GATA3 c.779-1748C>A ( ENST00000346208.4, ENST00000379328.9 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_001002295.2(GATA3):c.779-1748C>A AND not provided
ClinVar Allele ID
1211192
ClinVar RefSeq Alternation Syntax
NM_002051.3:c.779-1751C>A
ClinVar RefSeq Alternation Syntax
NM_001002295.2:c.779-1748C>A
Clinical Significance Description
Benign
Clinical Significance Last Update
2020-09-10
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001596311
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs