Annotation Detail
Information
- Associated Genes
- HELQ
- Associated Variants
-
HELQ p.Val306Ile (p.V306I)
(
ENST00000295488.8,
ENST00000510985.1 )
HELQ p.Val306Ile (p.V306I) ( ENST00000295488.8, ENST00000510985.1 ) - Associated Disease
- HELQ-related disorder
- Source Database
- ClinVar
- Description
- NM_133636.5(HELQ):c.916G>A (p.Val306Ile) AND HELQ-related disorder
- ClinVar Allele ID
- 3197404
- ClinVar RefSeq Alternation Syntax
- NM_001297757.2:c.-619G>A
- ClinVar RefSeq Alternation Syntax
- NM_001297759.2:c.916G>A
- ClinVar RefSeq Alternation Syntax
- NM_133636.5:c.916G>A
- ClinVar RefSeq Alternation Syntax
- NM_001297756.2:c.-589G>A
- ClinVar RefSeq Alternation Syntax
- NM_001297755.2:c.916G>A
- ClinVar RefSeq Alternation Syntax
- NR_123737.1:n.1234G>A
- ClinVar RefSeq Alternation Syntax
- NM_001297758.2:c.805G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-10-17
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003982500
- ClinVar Disease
- HELQ-related disorder
- Observed Origin Sample
- germline
Drugs