Annotation Detail
Information
- Associated Genes
- ARSA
- Associated Variants
-
ARSA p.Leu300Ser (p.L300S)
(
ENST00000395621.7,
ENST00000453344.6,
ENST00000395619.3,
ENST00000216124.10,
ENST00000356098.9 )
ARSA p.Leu300Ser (p.L300S) ( ENST00000453344.6, ENST00000356098.9, ENST00000395619.3, ENST00000216124.10, ENST00000395621.7 ) - Associated Disease
- metachromatic leukodystrophy
- Source Database
- ClinVar
- Description
- NM_000487.6(ARSA):c.899T>C (p.Leu300Ser) AND Metachromatic leukodystrophy
- ClinVar Allele ID
- 79048
- ClinVar RefSeq Alternation Syntax
- NM_001085426.3:c.899T>C
- ClinVar RefSeq Alternation Syntax
- NM_001362782.2:c.641T>C
- ClinVar RefSeq Alternation Syntax
- NM_001085425.3:c.899T>C
- ClinVar RefSeq Alternation Syntax
- NM_000487.6:c.899T>C
- ClinVar RefSeq Alternation Syntax
- NM_001085427.3:c.899T>C
- ClinVar RefSeq Alternation Syntax
- NM_001085428.3:c.641T>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2023-05-09
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001854230
- ClinVar Disease
- Metachromatic leukodystrophy
- Observed Origin Sample
- germline
Drugs