present in Gene: PROM1
present in Chromosome: 4
Position on Chromosome: 15988237
Alleles of this Variant: T/C
rs796051882 in
PROM1 gene and
Cone-Rod Dystrophy 2
PMID 26153215 2016 Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activation.