The PROM1 gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol PROM1
Gene name prominin 1
Chromosome 4
Chromosomal band p15
Imprinted Unknown
Genomic reference NG_011696.1
Transcript reference NM_006017.2
Exon/intron information NM_006017.2 exon/intron table
Associated with diseases CORD12, MCDR2, RP41, STGD4
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Pascal Escher
Total number of public variants reported 500
Unique public DNA variants reported 228
Individuals with public variants 1325
Hidden variants 5
Download all this gene's data Download all data
Notes This database is one of the "Eye disease" gene variant databases.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created October 13, 2009
Date last updated December 15, 2021
Version PROM1:211215

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_006017.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 9454
Entrez Gene 8842
PubMed articles PROM1
OMIM - Gene 604365
OMIM - Diseases CORD12 (dystrophy, cone-rod, type 12 (CORD-12))
MCDR2 (dystrophy, macular, retinal, type 2 (MCDR2, Bull's eye macular dystrophy))
RP41 (retinitis pigmentosa, type 41 (RP41))
STGD4 (Stargardt disease, type 4 (STGD-4))
GeneCards PROM1
GeneTests PROM1
Orphanet PROM1

Active transcripts




NCBI ID     

NCBI Protein ID     

00016885 4 transcript variant 1 NM_006017.2 NP_006008.1 500

Copyright & disclaimer
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