MASP1 - Gene browser | 3billion

MASP1

MASP1

MBL associated serine protease 1

HCNC Approved Symbol: MASP1 (HGNC:6901)
Genomic Coordinates: 3:187,217,282 - 187,291,737 (3q27.3)
Synonyms: MASP, Map44, MASP-3, MAP-1, CRARF, PRSS5
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 MASP1 gene.

Frequently observed phenotypes(Top 5 only)

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

02
Patient count

Dysmorphic facies: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Mental retardation: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)

Last updated: 2024-06-30

MASP1 - Gene browser | 3billion