Annotation Detail
Information
- Associated Genes
- BSCL2 HNRNPUL2-BSCL2
- Associated Variants
-
HNRNPUL2-BSCL2 c.*506A>G, BSCL2 p.Asn152Ser (p.N152S)
(
ENST00000405837.5,
ENST00000683296.1,
ENST00000403734.2,
ENST00000278893.11,
ENST00000407022.7,
ENST00000684067.1,
ENST00000449636.6,
ENST00000684475.1,
ENST00000682223.1,
ENST00000679883.1,
ENST00000360796.10,
ENST00000421906.5,
ENST00000403550.5,
ENST00000524862.6 )
HNRNPUL2-BSCL2 c.*506A>G, BSCL2 p.Asn152Ser (p.N152S) ( ENST00000278893.11, ENST00000360796.10, ENST00000403550.5, ENST00000405837.5, ENST00000407022.7, ENST00000421906.5, ENST00000449636.6, ENST00000524862.6, ENST00000679883.1, ENST00000682223.1, ENST00000683296.1, ENST00000684067.1, ENST00000684475.1, ENST00000403734.2 ) - Associated Disease
- Neuronopathy, distal hereditary motor, type 5C
- Source Database
- ClinVar
- Description
- NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser) AND Neuronopathy, distal hereditary motor, type 5C
- ClinVar Allele ID
- 19582
- ClinVar RefSeq Alternation Syntax
- NM_001122955.4:c.455A>G
- ClinVar RefSeq Alternation Syntax
- NM_001130702.2:c.263A>G
- ClinVar RefSeq Alternation Syntax
- NM_001386027.1:c.455A>G
- ClinVar RefSeq Alternation Syntax
- NM_032667.6:c.263A>G
- ClinVar RefSeq Alternation Syntax
- NM_001386028.1:c.455A>G
- ClinVar RefSeq Alternation Syntax
- NR_037946.1:n.2975A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-06-17
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001270680
- ClinVar Disease
- Neuronopathy, distal hereditary motor, type 5C
- Observed Origin Sample
- germline
- Pubmed
- 16427281
- Pubmed
- 23553728
- Pubmed
- 14981520
- Pubmed
- 5964029
- Pubmed
- 19396477
- Pubmed
- 1674639
- Pubmed
- 15732094
Drugs