Annotation Detail
Information
- Associated Genes
- ARSA
- Associated Variants
-
ARSA c.*96A>G
(
ENST00000216124.10,
ENST00000356098.9,
ENST00000395619.3,
ENST00000395621.7,
ENST00000453344.6 )
ARSA c.*96A>G ( ENST00000216124.10, ENST00000356098.9, ENST00000395619.3, ENST00000395621.7, ENST00000453344.6 ) - Associated Disease
- Arylsulfatase A pseudodeficiency
- Source Database
- ClinVar
- Description
- NM_000487.6(ARSA):c.*96A>G AND Arylsulfatase A pseudodeficiency
- ClinVar Allele ID
- 18088
- ClinVar RefSeq Alternation Syntax
- NM_001085428.3:c.*96A>G
- ClinVar RefSeq Alternation Syntax
- NM_000487.6:c.*96A>G
- ClinVar RefSeq Alternation Syntax
- NM_001362782.2:c.*96A>G
- ClinVar RefSeq Alternation Syntax
- NM_001085426.3:c.*96A>G
- ClinVar RefSeq Alternation Syntax
- NM_001085427.3:c.*96A>G
- ClinVar RefSeq Alternation Syntax
- NM_001085425.3:c.*96A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1998-08-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000003190
- ClinVar Disease
- Arylsulfatase A pseudodeficiency
- Observed Origin Sample
- germline
- Pubmed
- 9668161
- Pubmed
- 1357970
- Pubmed
- 1674719
- Pubmed
- 7866401
- Pubmed
- 7815433
Drugs