Annotation Detail
Information
- Associated Genes
- ARSL
- Associated Variants
-
ARSL p.His324= (p.H324=)
(
ENST00000381134.9,
ENST00000540563.6,
ENST00000545496.6,
ENST00000672027.1,
ENST00000672097.1,
ENST00000672761.1,
ENST00000673032.1,
ENST00000681963.1,
ENST00000682184.1,
ENST00000682364.1,
ENST00000683290.1,
ENST00000683677.1,
ENST00000683958.1,
ENST00000684077.1,
ENST00000684117.1,
ENST00000684364.1,
ENST00000684738.1 )
ARSL p.His324= (p.H324=) ( ENST00000672761.1, ENST00000673032.1, ENST00000381134.9, ENST00000540563.6, ENST00000545496.6, ENST00000672027.1, ENST00000672097.1, ENST00000681963.1, ENST00000682184.1, ENST00000682364.1, ENST00000683290.1, ENST00000683677.1, ENST00000683958.1, ENST00000684077.1, ENST00000684117.1, ENST00000684364.1, ENST00000684738.1 ) - Associated Disease
- Chondrodysplasia punctata, brachytelephalangic, autosomal
- Source Database
- ClinVar
- Description
- NM_000047.3(ARSL):c.897C>T (p.His299=) AND Chondrodysplasia punctata, brachytelephalangic, autosomal
- ClinVar Allele ID
- 800303
- ClinVar RefSeq Alternation Syntax
- NM_000047.3:c.897C>T
- ClinVar RefSeq Alternation Syntax
- NM_001282631.2:c.735C>T
- ClinVar RefSeq Alternation Syntax
- NM_001282628.2:c.972C>T
- ClinVar RefSeq Alternation Syntax
- NM_001369080.1:c.972C>T
- ClinVar RefSeq Alternation Syntax
- NM_001369079.1:c.924C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-11
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002549176
- ClinVar Disease
- Chondrodysplasia punctata, brachytelephalangic, autosomal
- Observed Origin Sample
- germline
Drugs