Annotation Detail

Information

Associated Genes: GBA1 LOC106627981
Associated Variants: GBA1 p.Leu483Pro (p.L483P) ( ENST00000327247.9, ENST00000427500.7, ENST00000368373.8, ENST00000428024.3 )
GBA1 p.Leu483Pro (p.L483P) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
Associated Disease: Gaucher disease type III
Source Database: ClinVar
Description: NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) AND Gaucher disease type III
ClinVar Allele ID: 19327
ClinVar RefSeq Alternation Syntax: NM_000157.4:c.1448T>C
ClinVar RefSeq Alternation Syntax: NM_001171812.2:c.1301T>C
ClinVar RefSeq Alternation Syntax: NM_001005742.3:c.1448T>C
ClinVar RefSeq Alternation Syntax: NM_001005741.3:c.1448T>C
ClinVar RefSeq Alternation Syntax: NM_001171811.2:c.1187T>C
Clinical Significance Description: Pathogenic
Clinical Significance Review Status: criteria provided, single submitter
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV000004510
ClinVar Disease: Gaucher disease type III
Observed Origin Sample: germline
Observed Origin Sample: biparental
Pubmed: 18332251
Pubmed: 1972019
Pubmed: 17620502
Pubmed: 22713811
Pubmed: 18541817
Pubmed: 2378352
Pubmed: 23448517
Pubmed: 1899336
Pubmed: 2309702
Pubmed: 18022370
Pubmed: 2569551
Pubmed: 19286695
Pubmed: 2464926
Pubmed: 10796875
Pubmed: 2880291

Drugs