Annotation Detail
Information
- Associated Genes
- PUS3 HYLS1
- Associated Variants
-
HYLS1 p.Gln67Arg (p.Q67R), PUS3 c.-46-3238T>C
(
ENST00000613398.4,
ENST00000526028.1,
ENST00000425380.7,
ENST00000356438.7,
ENST00000227474.8 )
HYLS1 p.Gln67Arg (p.Q67R), PUS3 c.-46-3238T>C ( ENST00000227474.8, ENST00000613398.4, ENST00000356438.7, ENST00000425380.7, ENST00000526028.1 ) - Associated Disease
- hydrolethalus syndrome
- Source Database
- ClinVar
- Description
- NM_001134793.2(HYLS1):c.200A>G (p.Gln67Arg) AND Hydrolethalus syndrome
- ClinVar Allele ID
- 978869
- ClinVar RefSeq Alternation Syntax
- NM_001377270.1:c.200A>G
- ClinVar RefSeq Alternation Syntax
- NM_001134793.2:c.200A>G
- ClinVar RefSeq Alternation Syntax
- NM_031307.4:c.-46-3238T>C
- ClinVar RefSeq Alternation Syntax
- NM_145014.3:c.200A>G
- ClinVar RefSeq Alternation Syntax
- NM_001377269.1:c.200A>G
- ClinVar RefSeq Alternation Syntax
- NM_001271985.2:c.-247+3602T>C
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2020-08-28
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001280321
- ClinVar Disease
- Hydrolethalus syndrome
- Observed Origin Sample
- germline
Drugs