Annotation Detail

Information
Associated Genes
HTRA1 ARMS2
Associated Variants
HTRA1 p.Gly36= (p.G36=) ( ENST00000648167.1, ENST00000368984.8 )
HTRA1 p.Gly36= (p.G36=) ( ENST00000368984.8, ENST00000648167.1 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_002775.5(HTRA1):c.108G>C (p.Gly36=) AND not provided
ClinVar Allele ID
34177
ClinVar RefSeq Alternation Syntax
NM_002775.5:c.108G>C
Clinical Significance Description
Benign
Clinical Significance Last Update
2024-01-30
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001515967
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs