Annotation Detail
Information
- Associated Genes
- GH1 GH-LCR
- Associated Variants
-
GH1 c.456+90T>A
(
ENST00000351388.8,
ENST00000458650.6,
ENST00000342364.8,
ENST00000323322.10,
ENST00000617086.1 )
GH1 c.456+90T>A ( ENST00000323322.10, ENST00000342364.8, ENST00000351388.8, ENST00000458650.6, ENST00000617086.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000515.5(GH1):c.456+90T>A AND not provided
- ClinVar Allele ID
- 1283020
- ClinVar RefSeq Alternation Syntax
- NM_022559.4:c.411+90T>A
- ClinVar RefSeq Alternation Syntax
- NM_022560.4:c.336+90T>A
- ClinVar RefSeq Alternation Syntax
- NM_000515.5:c.456+90T>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-11-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001717432
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs