rs1062535

This is a synonymous variant in the ITGA2 gene — it does not change the protein's amino acid sequence.

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ClinVar annotation

Benign★★★☆
3 submitters1 publication

Platelet-type bleeding disorder 9 (BDPLT9)

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Research that mentions this SNP (1)

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Genetic variants conferring susceptibility to gastroschisis: a phenomenon restricted to the interaction with the environment?
Meta-analysisN=434Victor M. Salinas-Torres et al.(2018)· Pediatric Surgery International

This systematic review analyzed genetic associations with gastroschisis from 1980-2017, identifying 14 SNPs from 10 genes associated with crude risk and 30 SNPs from 14 genes with stratified risk. Four SNPs showed significant associations: rs4961 (ADD1, p=0.023), rs5443 (GNB3, p=0.002), rs1042713 (ADRB2, p=0.007), and rs1042714 (ADRB2, p=0.006). The findings suggest genetic susceptibility in gastroschisis is not restricted to gene-environment interactions, with blood pressure regulation genes playing a significant role in vascular disruption pathogenesis.

Traits studied:Gastroschisis
PubMedDOIMetascience Observatory

About ITGA2

This gene encodes the alpha subunit of a transmembrane receptor for collagens and related proteins. The encoded protein forms a heterodimer with a beta subunit and mediates the adhesion of platelets and other cell types to the extracellular matrix. Loss of the encoded protein is associated with bleeding disorder platelet-type 9. Antibodies against this protein are found in several immune disorders, including neonatal alloimmune thrombocytopenia. This gene is located adjacent to a related alpha subunit gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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