RP1L1 Chromosome 8

RP1 like 1
150 variants 150 Health Risk

Upload your DNA to see your personal genotypes for variants in RP1L1.

What This Gene Does
This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, and two C-terminal large repetitive regions, both of which contain a high percentage of glutamine and glutamic acid residues. This protein is a retinal-specific protein. Its exact length varies among individuals due to the presence of a 16aa repeat in the first C-terminal repetitive region. The 16aa repeat is encoded by the highly polymorphic 48-bp repeat, and 1-6 copies of the 16aa repeat have been identified in normal individuals. The current reference sequence shown here has a single copy of the 16aa repeat. This protein and the RP1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Mutations in this gene cause occult macular dystrophy (OMD). [provided by RefSeq, Sep 2010]
Gene Info
Gene Group
Doublecortin superfamily
Locus Type
gene with protein product
Location
8p23.1
Ensembl
ENSG00000183638
Associated Conditions (10)
Occult macular dystrophy
Retinal dystrophy
Inborn genetic diseases
RP1L1-related disorder
See cases
Retinitis pigmentosa 88
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa
Congenital portosystemic shunt
Optic atrophy
Key Variants
RS1036667471
Conflicting classifications of pathogenicity
Occult macular dystrophy, Occult macular dystrophy
Health Risk
RS138816053
Conflicting classifications of pathogenicity
Occult macular dystrophy, Retinal dystrophy, Occult macular dystrophy
Health Risk
RS141128719
Conflicting classifications of pathogenicity
Occult macular dystrophy, Inborn genetic diseases, Occult macular dystrophy
Health Risk
RS142459130
Conflicting classifications of pathogenicity
Occult macular dystrophy, Inborn genetic diseases, Occult macular dystrophy
Health Risk
RS146002320
Conflicting classifications of pathogenicity
Occult macular dystrophy, Inborn genetic diseases, RP1L1-related disorder
Health Risk
RS1486810062
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS150931842
Conflicting classifications of pathogenicity
Occult macular dystrophy, Occult macular dystrophy
Health Risk
RS1797825562
Conflicting classifications of pathogenicity
Retinal dystrophy, Occult macular dystrophy, See cases
Health Risk
RS184332984
Conflicting classifications of pathogenicity
Occult macular dystrophy, RP1L1-related disorder, Retinal dystrophy
Health Risk
RS185749010
Conflicting classifications of pathogenicity
Occult macular dystrophy, Retinal dystrophy, Inborn genetic diseases
Health Risk
RS187140236
Conflicting classifications of pathogenicity
Occult macular dystrophy, Inborn genetic diseases, Occult macular dystrophy
Health Risk
RS187998469
Conflicting classifications of pathogenicity
Occult macular dystrophy, Retinal dystrophy, Retinitis pigmentosa 88
Health Risk
All Variants (150)
RSID Category Clinical Significance Conditions
RS769690517 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Inborn genetic diseases, Occult macular dystrophy
RS770312128 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 88, Retinal dystrophy, Retinitis pigmentosa 88
RS770740394 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Occult macular dystrophy
RS771041636 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771427543 Health Risk Conflicting classifications of pathogenicity RP1L1-related disorder, Retinitis pigmentosa 88, Occult macular dystrophy
RS772616971 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Inborn genetic diseases, Occult macular dystrophy
RS773894295 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Occult macular dystrophy
RS774309647 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Retinal dystrophy, Occult macular dystrophy
RS77679870 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, RP1L1-related disorder, Occult macular dystrophy
RS780247256 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Retinal dystrophy, Occult macular dystrophy
RS781490139 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Retinitis pigmentosa 88, Occult macular dystrophy
RS886062574 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Occult macular dystrophy
RS886062575 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Occult macular dystrophy
RS886062585 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Occult macular dystrophy
RS1045490638 Health Risk Likely pathogenic —
RS1250273464 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1797772026 Health Risk Likely pathogenic Occult macular dystrophy, Occult macular dystrophy
RS1797840556 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1797868307 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1797899160 Health Risk Likely pathogenic Retinitis pigmentosa 88, Retinitis pigmentosa 88
RS1797910388 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2117206210 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2486288900 Health Risk Likely pathogenic —
RS2486300886 Health Risk Likely pathogenic RP1L1-related disorder, RP1L1-related disorder
RS2486317956 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS267601690 Health Risk Likely pathogenic Retinitis pigmentosa 88, Retinitis pigmentosa 88
RS749294164 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS752436391 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS758831525 Health Risk Likely pathogenic —
RS760478436 Health Risk Likely pathogenic Retinitis pigmentosa 88, Retinitis pigmentosa 88
RS763759470 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS767002915 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS767562322 Health Risk Likely pathogenic —
RS768322665 Health Risk Likely pathogenic —
RS774522259 Health Risk Likely pathogenic —
RS779935453 Health Risk Likely pathogenic —
RS78127667 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS902876049 Health Risk Likely pathogenic RP1L1-related disorder, RP1L1-related disorder
RS986853401 Health Risk Likely pathogenic —
RS1205382497 Health Risk Pathogenic —
RS1585959862 Health Risk Pathogenic Retinitis pigmentosa 88, Retinitis pigmentosa 88
RS1585963931 Health Risk Pathogenic Retinitis pigmentosa 88, Autosomal recessive retinitis pigmentosa, Retinitis pigmentosa 88
RS387907367 Health Risk Pathogenic Retinitis pigmentosa 88, Retinitis pigmentosa 88
RS748984657 Health Risk Pathogenic Retinitis pigmentosa 88, Retinitis pigmentosa 88
RS755599243 Health Risk Pathogenic Retinitis pigmentosa 88, Retinitis pigmentosa 88
RS775708703 Health Risk Pathogenic —
RS777475406 Health Risk Pathogenic Retinitis pigmentosa 88, Retinitis pigmentosa 88
RS267607017 Health Risk Pathogenic/Likely pathogenic Occult macular dystrophy, Retinal dystrophy, Retinitis pigmentosa 88
RS371886218 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 88, Occult macular dystrophy
RS749460193 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 88, Retinal dystrophy
« Prev 1 2 3
Sign Up to Analyze Your DNA Log In