Annotation Detail
Information
- Associated Genes
- ARSA
- Associated Variants
-
ARSA p.Pro428Leu (p.P428L)
(
ENST00000216124.10,
ENST00000356098.9,
ENST00000395619.3,
ENST00000395621.7,
ENST00000453344.6 )
ARSA p.Pro428Leu (p.P428L) ( ENST00000216124.10, ENST00000356098.9, ENST00000395619.3, ENST00000395621.7, ENST00000453344.6 ) - Associated Disease
- Metachromatic leukodystrophy, juvenile type
- Source Database
- ClinVar
- Description
- NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) AND Metachromatic leukodystrophy, juvenile type
- ClinVar Allele ID
- 18091
- ClinVar RefSeq Alternation Syntax
- NM_000487.6:c.1283C>T
- ClinVar RefSeq Alternation Syntax
- NM_001085425.3:c.1283C>T
- ClinVar RefSeq Alternation Syntax
- NM_001085426.3:c.1283C>T
- ClinVar RefSeq Alternation Syntax
- NM_001085428.3:c.1025C>T
- ClinVar RefSeq Alternation Syntax
- NM_001362782.2:c.1025C>T
- ClinVar RefSeq Alternation Syntax
- NM_001085427.3:c.1283C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1997-01-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000003195
- ClinVar Disease
- Metachromatic leukodystrophy, juvenile type
- Observed Origin Sample
- germline
- Pubmed
- 1670590
- Pubmed
- 8095918
- Pubmed
- 9090526
- Pubmed
- 1671769
Drugs