Annotation Detail

Information
Associated Genes
CD93
Associated Variants
CD93 p.Pro541Ser (p.P541S) ( ENST00000246006.5 )
CD93 p.Pro541Ser (p.P541S) ( ENST00000246006.5 )
Associated Disease
not specified
Source Database
ClinVar
Description
NM_012072.4(CD93):c.1621C>T (p.Pro541Ser) AND not specified
ClinVar Allele ID
2849572
ClinVar RefSeq Alternation Syntax
NM_012072.4:c.1621C>T
Clinical Significance Description
Benign
Clinical Significance Last Update
2024-01-24
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV003490429
ClinVar Disease
not specified
Observed Origin Sample
germline
Drugs