Annotation Detail
Information
- Associated Genes
- BSCL2 HNRNPUL2-BSCL2
- Associated Variants
-
HNRNPUL2-BSCL2 c.*561_*557delCGTAT, BSCL2 p.Tyr170CysfsTer6 (p.Y170Cfs*6)
(
ENST00000278893.11,
ENST00000407022.7,
ENST00000405837.5,
ENST00000403734.2,
ENST00000683296.1,
ENST00000524862.6,
ENST00000403550.5,
ENST00000421906.5,
ENST00000684475.1,
ENST00000684067.1,
ENST00000449636.6,
ENST00000360796.10,
ENST00000682223.1,
ENST00000679883.1 )
HNRNPUL2-BSCL2 c.*561_*557delCGTAT, BSCL2 p.Tyr170CysfsTer6 (p.Y170Cfs*6) ( 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
- congenital generalized lipodystrophy type 2
- Source Database
- ClinVar
- Description
- NM_001122955.4(BSCL2):c.509_513del (p.Tyr170fs) AND Congenital generalized lipodystrophy type 2
- ClinVar Allele ID
- 19574
- ClinVar RefSeq Alternation Syntax
- NM_032667.6:c.317_321del
- ClinVar RefSeq Alternation Syntax
- NM_001386027.1:c.509_513del
- ClinVar RefSeq Alternation Syntax
- NM_001130702.2:c.317_321del
- ClinVar RefSeq Alternation Syntax
- NM_001386028.1:c.509_513del
- ClinVar RefSeq Alternation Syntax
- NM_001122955.4:c.509_513del
- ClinVar RefSeq Alternation Syntax
- NR_037946.1:n.3029_3033del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2007-12-26
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000004793
- ClinVar Disease
- Congenital generalized lipodystrophy type 2
- Observed Origin Sample
- germline
- Pubmed
- 18093937
- Pubmed
- 11479539
Drugs