Annotation Detail
Information
- Associated Genes
- GATA4
- Associated Variants
-
GATA4 p.Gly88Val (p.G88V)
(
ENST00000335135.8,
ENST00000528712.5,
ENST00000532059.6,
ENST00000622443.3 )
GATA4 p.Gly88Val (p.G88V) ( ENST00000335135.8, ENST00000528712.5, ENST00000532059.6, ENST00000622443.3 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001308093.3(GATA4):c.263G>T (p.Gly88Val) AND not provided
- ClinVar Allele ID
- 457788
- ClinVar RefSeq Alternation Syntax
- NM_001374273.1:c.-3+4271G>T
- ClinVar RefSeq Alternation Syntax
- NM_001308094.2:c.-6+7797G>T
- ClinVar RefSeq Alternation Syntax
- NM_001308093.3:c.263G>T
- ClinVar RefSeq Alternation Syntax
- NM_001374274.1:c.-3+561G>T
- ClinVar RefSeq Alternation Syntax
- NM_002052.5:c.263G>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2020-11-11
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001571509
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs