Gene entry
SHOC2
SHOC2 leucine rich repeat scaffold protein
- Chromosome
- 10
- Cytoband
- 10q25.2
- Variants (rsID)
- 15
SHOC2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 10 (region 10q25.2). Its official name is “SHOC2 leucine rich repeat scaffold protein”. The reference table lists 15 variants (rsID) for this gene.
Clinically classified variants
4 reference-table entries with clinical significance.
- rs1327552Benignsingle nucleotide variantNoonan syndrome-like disorder with loose anagen hair 1
- rs200015085Conflicting interpretationssingle nucleotide variantRASopathy|Noonan syndrome-like disorder with loose anagen hair 1
- rs201289608Conflicting interpretationssingle nucleotide variantRASopathy
- rs267607048Pathogenicsingle nucleotide variantNoonan syndrome-like disorder with loose anagen hair 1|RASopathy|Noonan syndrome|Inborn genetic diseases|Noonan syndrome-like disorder with loose anagen hair|Noonan syndrome and Noonan-related syndrome|Polycystic kidney disease 4
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.
