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HNRNPH1

heterogeneous nuclear ribonucleoprotein H1

HCNC Approved Symbol
HNRNPH1 (HGNC:5041)
Genomic Coordinates
5:179,614,178 - 179,634,784 (5q35.3)
Synonyms
hnRNPH, HNRPH1
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

2Patients

In total, 2 patients were diagnosed with a variant in the HNRNPH1 gene.

Frequently observed phenotypes

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

Atrial septal defect
 1 (50.0%)
Developmental delay, global
 1 (50.0%)
High palate
 1 (50.0%)
Hyperactive behavior
 1 (50.0%)
Hypoplastic nipples
 1 (50.0%)
HNRNPH1 - Gene browser | 3billion