Annotation Detail
Information
- Associated Genes
- DPYSL5
- Associated Variants
-
DPYSL5 p.Ala53Gly (p.A53G)
(
ENST00000288699.11,
ENST00000401478.5,
ENST00000614712.4 )
DPYSL5 p.Ala53Gly (p.A53G) ( ENST00000288699.11, ENST00000401478.5, ENST00000614712.4 ) - Associated Disease
- Ritscher-Schinzel syndrome 4
- Source Database
- ClinVar
- Description
- NM_020134.4(DPYSL5):c.158C>G (p.Ala53Gly) AND Ritscher-Schinzel syndrome 4
- ClinVar Allele ID
- 2850007
- ClinVar RefSeq Alternation Syntax
- NM_020134.4:c.158C>G
- ClinVar RefSeq Alternation Syntax
- NM_001253723.2:c.158C>G
- ClinVar RefSeq Alternation Syntax
- NM_001253724.2:c.158C>G
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-07-13
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003492993
- ClinVar Disease
- Ritscher-Schinzel syndrome 4
- Observed Origin Sample
- germline
Drugs