rs765907815
This is a stop gained variant in the CLMP gene.
▶ClinVar annotation
Congenital short bowel syndrome (CSBS); Congenital short bowel syndrome, autosomal recessive; Intestinal pseudo-obstruction
View on ClinVar →About CLMP
This gene encodes a type I transmembrane protein that is localized to junctional complexes between endothelial and epithelial cells and may have a role in cell-cell adhesion. Expression of this gene in white adipose tissue is implicated in adipocyte maturation and development of obesity. This gene is also essential for normal intestinal development and mutations in the gene are associated with congenital short bowel syndrome. [provided by RefSeq, Aug 2015]
View all CLMP variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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