Annotation Detail
Information
- Associated Genes
- SREBF2
- Associated Variants
-
SREBF2 p.Gly595Ala (p.G595A)
(
ENST00000361204.9,
ENST00000710853.1 )
SREBF2 p.Gly595Ala (p.G595A) ( ENST00000361204.9, ENST00000710853.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_004599.4(SREBF2):c.1784G>C (p.Gly595Ala) AND not provided
- ClinVar Allele ID
- 1275752
- ClinVar RefSeq Alternation Syntax
- NM_004599.4:c.1784G>C
- ClinVar RefSeq Alternation Syntax
- NR_103834.2:n.2050G>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-05-04
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001708207
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs