Annotation Detail

Information
Associated Genes
SLC28A2 SLC28A2-AS1
Associated Variants
SLC28A2 p.Ser75Arg (p.S75R) ( ENST00000347644.8 )
SLC28A2 p.Ser75Arg (p.S75R) ( ENST00000347644.8 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_004212.4(SLC28A2):c.225C>A (p.Ser75Arg) AND not provided
ClinVar Allele ID
1258095
ClinVar RefSeq Alternation Syntax
NM_004212.4:c.225C>A
Clinical Significance Description
Benign
Clinical Significance Last Update
2019-01-18
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001678312
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs