Annotation Detail

Information
Associated Genes
GBA1 LOC106627981
Associated Variants
GBA1 p.Arg398Ter (p.R398*) ( ENST00000427500.7, ENST00000368373.8, ENST00000327247.9, ENST00000428024.3 )
GBA1 p.Arg398Ter (p.R398*) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_000157.4(GBA1):c.1192C>T (p.Arg398Ter) AND not provided
ClinVar Allele ID
19365
ClinVar RefSeq Alternation Syntax
NM_001171811.2:c.931C>T
ClinVar RefSeq Alternation Syntax
NM_001171812.2:c.1045C>T
ClinVar RefSeq Alternation Syntax
NM_001005741.3:c.1192C>T
ClinVar RefSeq Alternation Syntax
NM_001005742.3:c.1192C>T
ClinVar RefSeq Alternation Syntax
NM_000157.4:c.1192C>T
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2023-12-01
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000585360
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs