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HNRNPK

heterogeneous nuclear ribonucleoprotein K

HCNC Approved Symbol
HNRNPK (HGNC:5044)
Genomic Coordinates
9:83,968,083 - 83,980,615 (9q21.32)
Synonyms
CSBP, TUNP, HNRPK
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

10Patients

In total, 10 patients were diagnosed with a variant in the HNRNPK gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Hypotonia
 3 (30.0%)
Atrial septal defect
 2 (20.0%)
Cleft palate
 2 (20.0%)
Hearing loss
 2 (20.0%)
Hydronephrosis
 2 (20.0%)
HNRNPK - Gene browser | 3billion