Annotation Detail

Information
Associated Genes
SLC2A1
Associated Variants
SLC2A1 p.Arg92= (p.R92=) ( ENST00000674765.1, ENST00000426263.10 )
SLC2A1 p.Arg92= (p.R92=) ( ENST00000426263.10, ENST00000674765.1 )
Associated Disease
not specified
Source Database
ClinVar
Description
NM_006516.4(SLC2A1):c.274C>A (p.Arg92=) AND not specified
ClinVar Allele ID
201165
ClinVar RefSeq Alternation Syntax
NM_006516.4:c.274C>A
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2022-09-30
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV002298514
ClinVar Disease
not specified
Observed Origin Sample
germline
Drugs