LRIT3 Chromosome 4

Leucine rich repeat, Ig-like and transmembrane domains 3

23 variants 23 Health Risk

Upload your DNA to see your personal genotypes for variants in LRIT3.

What This Gene Does

This gene encodes a protein that has a fibronectin type III domain and a C-terminal transmembrane domain, as well as a leucine-rich repeat domain and immunoglobulin-like domain near the N-terminus. The encoded protein may regulate fibroblast growth factor receptors and affect the modification of these receptors, which are glycosylated differently in the Golgi and endoplasmic reticulum. Mutations in this gene are associated with congenital stationary night blindness, type 1F. [provided by RefSeq, May 2013]

Gene Info

Gene Group

I-set domain containing

Locus Type

gene with protein product

Location

4q25

Ensembl

ENSG00000183423

Associated Conditions (5)

Congenital stationary night blindness 1F

LRIT3-related disorder

Inborn genetic diseases

Optic atrophy

Stargardt disease

Key Variants

RS1054476083

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1F, Congenital stationary night blindness 1F

Health Risk

RS139822530

Conflicting classifications of pathogenicity

Health Risk

RS141753583

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1F, Congenital stationary night blindness 1F

Health Risk

RS145776307

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1F, Congenital stationary night blindness 1F

Health Risk

RS148450929

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1F, Congenital stationary night blindness 1F

Health Risk

RS148810231

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1F, LRIT3-related disorder, Optic atrophy

Health Risk

RS149836249

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS150750727

Conflicting classifications of pathogenicity

Health Risk

RS199943498

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1F, Congenital stationary night blindness 1F

Health Risk

RS369821286

Conflicting classifications of pathogenicity

Health Risk

RS373793629

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1F, LRIT3-related disorder, Congenital stationary night blindness 1F

Health Risk

RS528069315

Conflicting classifications of pathogenicity

Congenital stationary night blindness 1F, Congenital stationary night blindness 1F

Health Risk

All Variants (23)

RSID	Category	Clinical Significance	Conditions
RS1054476083	Health Risk	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1F, Congenital stationary night blindness 1F
RS139822530	Health Risk	Conflicting classifications of pathogenicity	LRIT3-related disorder, Inborn genetic diseases, LRIT3-related disorder
RS141753583	Health Risk	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1F, Congenital stationary night blindness 1F
RS145776307	Health Risk	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1F, Congenital stationary night blindness 1F
RS148450929	Health Risk	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1F, Congenital stationary night blindness 1F
RS148810231	Health Risk	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1F, LRIT3-related disorder, Optic atrophy
RS149836249	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS150750727	Health Risk	Conflicting classifications of pathogenicity	—
RS199943498	Health Risk	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1F, Congenital stationary night blindness 1F
RS369821286	Health Risk	Conflicting classifications of pathogenicity	—
RS373793629	Health Risk	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1F, LRIT3-related disorder, Congenital stationary night blindness 1F
RS528069315	Health Risk	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1F, Congenital stationary night blindness 1F
RS538101562	Health Risk	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1F, Congenital stationary night blindness 1F
RS75722024	Health Risk	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1F, Inborn genetic diseases, LRIT3-related disorder
RS761341365	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS762638752	Health Risk	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1F, Congenital stationary night blindness 1F
RS763629262	Health Risk	Conflicting classifications of pathogenicity	—
RS890325688	Health Risk	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1F, Congenital stationary night blindness 1F
RS992042707	Health Risk	Conflicting classifications of pathogenicity	Congenital stationary night blindness 1F, LRIT3-related disorder, Congenital stationary night blindness 1F
RS2125900955	Health Risk	Pathogenic	Congenital stationary night blindness 1F, Congenital stationary night blindness 1F
RS2545576663	Health Risk	Pathogenic	Stargardt disease, Stargardt disease
RS397509379	Health Risk	Pathogenic	Congenital stationary night blindness 1F, Congenital stationary night blindness 1F
RS397509380	Health Risk	Pathogenic	Congenital stationary night blindness 1F, Congenital stationary night blindness 1F