Annotation Detail

Information
Associated Genes
NUS1
Associated Variants
NUS1 p.Leu210Ser (p.L210S) ( ENST00000368494.4 )
NUS1 p.Leu210Ser (p.L210S) ( ENST00000368494.4 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_138459.5(NUS1):c.629T>C (p.Leu210Ser) AND not provided
ClinVar Allele ID
1444446
ClinVar RefSeq Alternation Syntax
NM_138459.5:c.629T>C
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2021-05-18
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV003134260
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs