Annotation Detail

Information

Associated Genes: GBA1 LOC106627981
Associated Variants: GBA1 p.Asp448His (p.D448H) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 p.Asp448His (p.D448H) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
Associated Disease: Gaucher disease type I
Source Database: ClinVar
Description: NM_000157.4(GBA1):c.1342G>C (p.Asp448His) AND Gaucher disease type I
ClinVar Allele ID: 19332
ClinVar RefSeq Alternation Syntax: NM_001005741.3:c.1342G>C
ClinVar RefSeq Alternation Syntax: NM_001005742.3:c.1342G>C
ClinVar RefSeq Alternation Syntax: NM_001171811.2:c.1081G>C
ClinVar RefSeq Alternation Syntax: NM_001171812.2:c.1195G>C
ClinVar RefSeq Alternation Syntax: NM_000157.4:c.1342G>C
Clinical Significance Description: Pathogenic/Likely pathogenic
Clinical Significance Last Update: 2023-08-19
Clinical Significance Review Status: criteria provided, multiple submitters, no conflicts
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV000004523
ClinVar Disease: Gaucher disease type I
Observed Origin Sample: germline
Observed Origin Sample: unknown
Observed Origin Sample: maternal
Pubmed: 8544197
Pubmed: 9040001
Pubmed: 11148530
Pubmed: 18586596
Pubmed: 8790604
Pubmed: 10636167
Pubmed: 1974409
Pubmed: 2502917
Pubmed: 7475546
Pubmed: 7627184
Pubmed: 12838552

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