Annotation Detail
Information
- Associated Genes
- UCP2
- Associated Variants
-
UCP2 p.Ala55Val (p.A55V)
(
ENST00000663595.2,
ENST00000310473.9,
ENST00000536983.5 )
UCP2 p.Ala55Val (p.A55V) ( ENST00000310473.9, ENST00000536983.5, ENST00000663595.2 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_003355.3(UCP2):c.164C>T (p.Ala55Val) AND not provided
- ClinVar Allele ID
- 136143
- ClinVar RefSeq Alternation Syntax
- NM_001381945.1:c.164C>T
- ClinVar RefSeq Alternation Syntax
- NM_001381944.1:c.164C>T
- ClinVar RefSeq Alternation Syntax
- NM_001381943.1:c.164C>T
- ClinVar RefSeq Alternation Syntax
- NM_003355.3:c.164C>T
- ClinVar RefSeq Alternation Syntax
- NM_001381947.1:c.164C>T
- ClinVar RefSeq Alternation Syntax
- NM_001381950.1:c.164C>T
- ClinVar RefSeq Alternation Syntax
- NM_001381949.1:c.164C>T
- ClinVar RefSeq Alternation Syntax
- NM_001381948.1:c.164C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-02-01
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001682828
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs