Annotation Detail
Information
- Associated Genes
- BSCL2
- Associated Variants
-
HNRNPUL2-BSCL2 c.*512C>T, BSCL2 p.Ser154Leu (p.S154L)
(
ENST00000683296.1,
ENST00000407022.7,
ENST00000684475.1,
ENST00000682223.1,
ENST00000421906.5,
ENST00000405837.5,
ENST00000403734.2,
ENST00000278893.11,
ENST00000449636.6,
ENST00000684067.1,
ENST00000360796.10,
ENST00000679883.1,
ENST00000524862.6,
ENST00000403550.5 )
HNRNPUL2-BSCL2 c.*512C>T, BSCL2 p.Ser154Leu (p.S154L) ( 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
- Russell-Silver syndrome
- Source Database
- DisGeNET
- Description
- We studied the first Korean families with clinical features resembling classic Silver syndrome and dHMN type V. Direct sequencing analysis of the BSCL2 gene revealed a Ser90Leu mutation in the proband, a younger sister, and one of two sons of the proband.
- Pubmed
- 17486577
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00271441872080303
- Year of publication
- 2007
Drugs