Annotation Detail

Information
Associated Genes
GBA1 LOC106627981
Associated Variants
GBA1 p.Lys196Gln (p.K196Q) ( ENST00000428024.3, ENST00000327247.9, ENST00000427500.7, ENST00000368373.8 )
GBA1 p.Lys196Gln (p.K196Q) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_000157.4(GBA1):c.586A>C (p.Lys196Gln) AND not provided
ClinVar Allele ID
19339
ClinVar RefSeq Alternation Syntax
NM_000157.4:c.586A>C
ClinVar RefSeq Alternation Syntax
NM_001005742.3:c.586A>C
ClinVar RefSeq Alternation Syntax
NM_001005741.3:c.586A>C
ClinVar RefSeq Alternation Syntax
NM_001171812.2:c.439A>C
ClinVar RefSeq Alternation Syntax
NM_001171811.2:c.325A>C
Clinical Significance Description
Uncertain significance
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001572837
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs