Annotation Detail
Information
- Associated Genes
- GAA
- Associated Variants
-
GAA c.1438-1G>T
(
ENST00000302262.8,
ENST00000714055.1,
ENST00000714058.1,
ENST00000714057.1,
ENST00000577106.6,
ENST00000714054.1,
ENST00000390015.7,
ENST00000570803.6,
ENST00000714062.1 )
GAA c.1438-1G>T ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000152.5(GAA):c.1438-1G>T AND not provided
- ClinVar Allele ID
- 653056
- ClinVar RefSeq Alternation Syntax
- NM_000152.5:c.1438-1G>T
- ClinVar RefSeq Alternation Syntax
- NM_001079803.3:c.1438-1G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406742.1:c.1438-1G>T
- ClinVar RefSeq Alternation Syntax
- NM_001079804.3:c.1438-1G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406741.1:c.1438-1G>T
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2023-04-28
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001785729
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs