RBM48 Chromosome 7

RNA binding motif protein 48

1 variant 1 Health Risk

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What This Gene Does

Predicted to enable RNA binding activity. Predicted to be involved in RNA splicing and mRNA processing. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

Gene Info

Gene Group

RNA binding motif containing

Locus Type

gene with protein product

Location

7q21.2

Ensembl

ENSG00000127993

Associated Conditions (1)

Nephronophthisis

Key Variants

RS372607453

Likely pathogenic

Nephronophthisis, Nephronophthisis

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS372607453	Health Risk	Likely pathogenic	Nephronophthisis, Nephronophthisis