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LRP2

LDL receptor related protein 2

HCNC Approved Symbol
LRP2 (HGNC:6694)
Genomic Coordinates
2:169,127,109 - 169,362,534 (2q31.1)
Synonyms
gp330, DBS
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

3Patients

In total, 3 patients were diagnosed with a variant in the LRP2 gene.

Frequently observed phenotypes

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

Hearing impairment
 2 (66.7%)
Hearing loss
 2 (66.7%)
Nephronophthisis
 2 (66.7%)
Retinitis pigmentosa
 2 (66.7%)
Rod-cone dystrophy
 2 (66.7%)
LRP2 - Gene browser | 3billion