MLPH - Gene browser | 3billion

MLPH

MLPH

melanophilin

HCNC Approved Symbol: MLPH (HGNC:29643)
Genomic Coordinates: 2:237,486,410 - 237,555,322 (2q37.3)
Synonyms: l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3, SLAC2-A
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 MLPH 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

Albinism: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)
White hair: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)

Last updated: 2024-06-30

MLPH - Gene browser | 3billion