Annotation Detail
Information
- Associated Genes
- GBA1 LOC106627981
- Associated Variants
-
GBA1 p.Ile299Thr (p.I299T)
(
ENST00000327247.9,
ENST00000428024.3,
ENST00000368373.8,
ENST00000427500.7 )
GBA1 p.Ile299Thr (p.I299T) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000157.4(GBA1):c.896T>C (p.Ile299Thr) AND not provided
- ClinVar Allele ID
- 195917
- ClinVar RefSeq Alternation Syntax
- NM_001171811.2:c.635T>C
- ClinVar RefSeq Alternation Syntax
- NM_001005742.3:c.896T>C
- ClinVar RefSeq Alternation Syntax
- NM_001171812.2:c.749T>C
- ClinVar RefSeq Alternation Syntax
- NM_000157.4:c.896T>C
- ClinVar RefSeq Alternation Syntax
- NM_001005741.3:c.896T>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2023-05-11
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000180196
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs