Annotation Detail
Information
- Associated Genes
- POMC
- Associated Variants
-
POMC c.132+329A>C
(
ENST00000264708.7,
ENST00000380794.5,
ENST00000395826.7,
ENST00000405623.5 )
POMC c.132+329A>C ( ENST00000264708.7, ENST00000380794.5, ENST00000395826.7, ENST00000405623.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000939.4(POMC):c.132+329A>C AND not provided
- ClinVar Allele ID
- 1249068
- ClinVar RefSeq Alternation Syntax
- NM_001319204.2:c.132+329A>C
- ClinVar RefSeq Alternation Syntax
- NM_001319205.2:c.132+329A>C
- ClinVar RefSeq Alternation Syntax
- NM_001035256.3:c.132+329A>C
- ClinVar RefSeq Alternation Syntax
- NM_000939.4:c.132+329A>C
- 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/RCV001670830
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs