Annotation Detail
Information
- Associated Genes
- GHRL GHRLOS
- Associated Variants
-
GHRL p.Gln90Leu (p.Q90L)
(
ENST00000287656.11,
ENST00000335542.13,
ENST00000422159.5,
ENST00000429122.1,
ENST00000430179.5,
ENST00000437422.6,
ENST00000439975.6,
ENST00000446937.2,
ENST00000449238.6,
ENST00000457360.5 )
GHRL p.Gln90Leu (p.Q90L) ( ENST00000287656.11, ENST00000335542.13, ENST00000422159.5, ENST00000429122.1, ENST00000430179.5, ENST00000437422.6, ENST00000439975.6, ENST00000446937.2, ENST00000449238.6, ENST00000457360.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_016362.5(GHRL):c.269A>T (p.Gln90Leu) AND not provided
- ClinVar Allele ID
- 20102
- ClinVar RefSeq Alternation Syntax
- NM_001134946.2:c.116A>T
- ClinVar RefSeq Alternation Syntax
- NM_001302821.2:c.269A>T
- ClinVar RefSeq Alternation Syntax
- NM_001302823.2:c.266A>T
- ClinVar RefSeq Alternation Syntax
- NM_001302825.2:c.269A>T
- ClinVar RefSeq Alternation Syntax
- NM_001134941.3:c.266A>T
- ClinVar RefSeq Alternation Syntax
- NM_001134945.2:c.230A>T
- ClinVar RefSeq Alternation Syntax
- NM_001134944.2:c.233A>T
- ClinVar RefSeq Alternation Syntax
- NM_001302824.2:c.269A>T
- ClinVar RefSeq Alternation Syntax
- NM_001302822.2:c.269A>T
- ClinVar RefSeq Alternation Syntax
- NM_016362.5:c.269A>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-06-09
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001723541
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs