Annotation Detail

Information
Associated Genes
GBA1 LOC106627981
Associated Variants
GBA1 p.Phe252Ile (p.F252I) ( ENST00000368373.8, ENST00000427500.7, ENST00000428024.3, ENST00000327247.9 )
GBA1 p.Phe252Ile (p.F252I) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
Associated Disease
not specified
Source Database
ClinVar
Description
NM_000157.4(GBA1):c.754T>A (p.Phe252Ile) AND not specified
ClinVar Allele ID
19340
ClinVar RefSeq Alternation Syntax
NM_001171812.2:c.607T>A
ClinVar RefSeq Alternation Syntax
NM_000157.4:c.754T>A
ClinVar RefSeq Alternation Syntax
NM_001005741.3:c.754T>A
ClinVar RefSeq Alternation Syntax
NM_001005742.3:c.754T>A
ClinVar RefSeq Alternation Syntax
NM_001171811.2:c.493T>A
Clinical Significance Description
Likely pathogenic
Clinical Significance Last Update
2018-02-19
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV004018559
ClinVar Disease
not specified
Observed Origin Sample
germline
Drugs