Annotation Detail
Information
- Associated Genes
- ARSA
- Associated Variants
-
ARSA p.Gly311Ser (p.G311S)
(
ENST00000216124.10,
ENST00000356098.9,
ENST00000395619.3,
ENST00000395621.7,
ENST00000453344.6 )
ARSA p.Gly311Ser (p.G311S) ( ENST00000216124.10, ENST00000356098.9, ENST00000395619.3, ENST00000395621.7, ENST00000453344.6 ) - Associated Disease
- Pseudoarylsulfatase A deficiency
- Source Database
- ClinVar
- Description
- NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) AND Pseudoarylsulfatase A deficiency
- ClinVar Allele ID
- 18099
- ClinVar RefSeq Alternation Syntax
- NM_000487.6:c.931G>A
- ClinVar RefSeq Alternation Syntax
- NM_001085426.3:c.931G>A
- ClinVar RefSeq Alternation Syntax
- NM_001085427.3:c.931G>A
- ClinVar RefSeq Alternation Syntax
- NM_001362782.2:c.673G>A
- ClinVar RefSeq Alternation Syntax
- NM_001085428.3:c.673G>A
- ClinVar RefSeq Alternation Syntax
- NM_001085425.3:c.931G>A
- Clinical Significance Description
- no classifications from unflagged records
- Clinical Significance Last Update
- 2024-01-31
- Clinical Significance Review Status
- no classifications from unflagged records
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000714802
- ClinVar Disease
- Pseudoarylsulfatase A deficiency
- Observed Origin Sample
- inherited
Drugs