Annotation Detail
Information
- Associated Genes
- SHOC2
- Associated Variants
-
SHOC2 p.Ser2Gly (p.S2G)
(
ENST00000369452.9,
ENST00000451838.2,
ENST00000265277.10,
ENST00000685059.1,
ENST00000688928.1,
ENST00000689118.1,
ENST00000689300.1,
ENST00000689997.1,
ENST00000691369.1,
ENST00000691441.1,
ENST00000691903.1,
ENST00000692776.1 )
SHOC2 p.Ser2Gly (p.S2G) ( ENST00000265277.10, ENST00000369452.9, ENST00000451838.2, ENST00000685059.1, ENST00000688928.1, ENST00000689118.1, ENST00000689300.1, ENST00000689997.1, ENST00000691369.1, ENST00000691441.1, ENST00000691903.1, ENST00000692776.1 ) - Associated Disease
- Noonan-Like Syndrome With Loose Anagen Hair
- Source Database
- DisGeNET
- Description
- Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM 607721) due to a missense mutation c.4A>G in SHOC2 predicting p.Ser2Gly has been described recently.
- Pubmed
- 24458596
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00217153497664243
- Year of publication
- 2013
Drugs