Annotation Detail
Information
- Associated Genes
- GHSR
- Associated Variants
-
GHSR p.Arg159= (p.R159=)
(
ENST00000241256.3,
ENST00000427970.1 )
GHSR p.Arg159= (p.R159=) ( ENST00000241256.3, ENST00000427970.1 ) - Associated Disease
- Short stature due to growth hormone secretagogue receptor deficiency
- Source Database
- ClinVar
- Description
- NM_198407.2(GHSR):c.477G>A (p.Arg159=) AND Short stature due to growth hormone secretagogue receptor deficiency
- ClinVar Allele ID
- 251009
- ClinVar RefSeq Alternation Syntax
- NM_198407.2:c.477G>A
- ClinVar RefSeq Alternation Syntax
- NM_004122.2:c.477G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-08-10
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000347022
- ClinVar Disease
- Short stature due to growth hormone secretagogue receptor deficiency
- Observed Origin Sample
- germline
Drugs