rs1247543296
This variant is located in the TRNT1 gene.
▶ClinVar annotation
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
View on ClinVar →About TRNT1
The protein encoded by this gene is a CCA-adding enzyme which belongs to the tRNA nucleotidyltransferase/poly(A) polymerase family. This essential enzyme functions by catalyzing the addition of the conserved nucleotide triplet CCA to the 3' terminus of tRNA molecules. Mutations in this gene result in sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
View all TRNT1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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