Annotation Detail
Information
- Associated Genes
- GHRL GHRLOS
- Associated Variants
-
GHRL p.Leu72Met (p.L72M)
(
ENST00000287656.11,
ENST00000335542.13,
ENST00000422159.5,
ENST00000429122.1,
ENST00000430179.5,
ENST00000437422.6,
ENST00000439975.6,
ENST00000446937.2,
ENST00000449238.6,
ENST00000457360.5 )
GHRL p.Leu72Met (p.L72M) ( ENST00000287656.11, ENST00000335542.13, ENST00000422159.5, ENST00000429122.1, ENST00000430179.5, ENST00000437422.6, ENST00000439975.6, ENST00000446937.2, ENST00000449238.6, ENST00000457360.5 ) - Associated Disease
- Obesity, age at onset of
- Source Database
- ClinVar
- Description
- NM_016362.5(GHRL):c.214C>A (p.Leu72Met) AND Obesity, age at onset of
- ClinVar Allele ID
- 20101
- ClinVar RefSeq Alternation Syntax
- NM_001134944.2:c.178C>A
- ClinVar RefSeq Alternation Syntax
- NM_001134941.3:c.211C>A
- ClinVar RefSeq Alternation Syntax
- NM_001302824.2:c.214C>A
- ClinVar RefSeq Alternation Syntax
- NM_001134945.2:c.175C>A
- ClinVar RefSeq Alternation Syntax
- NM_001302822.2:c.214C>A
- ClinVar RefSeq Alternation Syntax
- NM_001302825.2:c.214C>A
- ClinVar RefSeq Alternation Syntax
- NM_001302821.2:c.214C>A
- ClinVar RefSeq Alternation Syntax
- NM_016362.5:c.214C>A
- ClinVar RefSeq Alternation Syntax
- NM_001134946.2:c.73-2961C>A
- ClinVar RefSeq Alternation Syntax
- NM_001302823.2:c.211C>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2005-12-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000005365
- ClinVar Disease
- Obesity, age at onset of
- Observed Origin Sample
- germline
- Pubmed
- 12050239
- Pubmed
- 16204371
- Pubmed
- 11502844
- Pubmed
- 12161552
Drugs