PROSER1 - Gene browser

PROSER1

proline and serine rich 1

HCNC Approved Symbol: PROSER1 (HGNC:20291)
Genomic Coordinates: 13:39,009,865 - 39,038,089 (13q13.3)
Synonyms: bA50D16.2, FLJ12661, C13orf23
Disease Associations: Currently, this gene is not associated with any human disease in OMIM.
However, the following publication(s) suggest a possible gene disease association.

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the PROSER1 gene.

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

01
Patient count

Anorectal anomaly: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Arched eyebrows: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Butterfly vertebrae: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Cryptorchidism: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Deep plantar creases: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)