rs375415234
This variant is located in the SPECC1 gene.
▶ClinVar annotation
About SPECC1
The protein encoded by this gene belongs to the cytospin-A family. It is localized in the nucleus, and highly expressed in testis and some cancer cell lines. A chromosomal translocation involving this gene and platelet-derived growth factor receptor, beta gene (PDGFRB) may be a cause of juvenile myelomonocytic leukemia. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
View all SPECC1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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