Annotation Detail
Information
- Associated Genes
- HJV
- Associated Variants
-
HJV p.Leu101Pro (p.L101P)
(
ENST00000475797.1,
ENST00000336751.11,
ENST00000636675.1,
ENST00000497365.5,
ENST00000634927.1,
ENST00000357836.5 )
HJV p.Leu101Pro (p.L101P) ( ENST00000336751.11, ENST00000357836.5, ENST00000475797.1, ENST00000497365.5, ENST00000634927.1, ENST00000636675.1 ) - Associated Disease
- HJV-related disorder
- Source Database
- ClinVar
- Description
- NM_213653.4(HJV):c.302T>C (p.Leu101Pro) AND HJV-related disorder
- ClinVar Allele ID
- 17409
- ClinVar RefSeq Alternation Syntax
- NM_001379352.1:c.302T>C
- ClinVar RefSeq Alternation Syntax
- NM_213652.4:c.-21-830T>C
- ClinVar RefSeq Alternation Syntax
- NM_001316767.2:c.-22+168T>C
- ClinVar RefSeq Alternation Syntax
- NM_213653.4:c.302T>C
- ClinVar RefSeq Alternation Syntax
- NM_145277.5:c.-38T>C
- ClinVar RefSeq Alternation Syntax
- NM_202004.4:c.-22+168T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-02-07
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003415628
- ClinVar Disease
- HJV-related disorder
- Observed Origin Sample
- germline
Drugs