rs17598321

This variant is located in the EPS8L3 gene.

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ClinVar annotation

Benign
1 submitter

EPS8L3-related disorder

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Research that mentions this SNP (1)

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Identification of rare genetic variants in novel loci associated with Paget’s disease of bone
AssociationN=537Mariejka Beauregard et al.(2014)· Human Genetics

This association study identified 126 rare genetic variants in candidate genes within five novel Paget's disease of bone (PDB)-associated loci in a French-Canadian population (240 cases, 297 controls). The study replicated associations with common variants rs484959, rs499345, rs10494112 (1p13 locus) and rs5742915 (15q24 locus). Two rare variants showed marginal association with PDB: rs62620995 (p.Leu397Phe in TM7SF4, p=0.09, RR=2.06) and rs35500845 (c.372+259a>G in CTHRC1, p=0.046, RR=0.65).

Traits studied:Paget's disease of bone
PubMedDOIMetascience Observatory

About EPS8L3

This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. Alternatively spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Jul 2008]

View all EPS8L3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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