Gene: RBM48

Alternate names for this Gene: C7orf64|HSPC304

Gene Summary:

Gene is located in Chromosome: 7

Location in Chromosome : 7q21.2

Description of this Gene: RNA binding motif protein 48

Type of Gene: protein-coding

rs372607453 in RBM48 gene and Nephronophthisis PMID 26489029 2016 Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.