NYX (nyctalopin)

2014-11-01  

Identity

HGNC
LOCATION
Xp11.4
LOCUSID
ALIAS
CLRP,CSNB1,CSNB1A,CSNB4,NBM1

Other Information

Locus ID:

NCBI: 60506
MIM: 300278
HGNC: 8082
Ensembl: ENSG00000188937

Variants:

dbSNP: 60506
ClinVar: 60506
TCGA: ENSG00000188937
COSMIC: NYX

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000188937ENST00000342595Q9GZU5
ENSG00000188937ENST00000378220Q9GZU5

Expression (GTEx)

0
1

References

Pubmed IDYearTitleCitations
337692082021Complete congenital stationary night blindness associated with a novel NYX variant (p.Asn216Lys) in middle-aged and older adult patients.0
341650362021NYX-related Congenital Stationary Night Blindness in Two Siblings due to Probable Maternal Germline Mosaicism.2
337692082021Complete congenital stationary night blindness associated with a novel NYX variant (p.Asn216Lys) in middle-aged and older adult patients.0
341650362021NYX-related Congenital Stationary Night Blindness in Two Siblings due to Probable Maternal Germline Mosaicism.2
318266982019Novel frameshift mutation in NYX gene in a Russian family with complete congenital stationary night blindness.2
318266982019Novel frameshift mutation in NYX gene in a Russian family with complete congenital stationary night blindness.2
258024852015NYX mutations in four families with high myopia with or without CSNB1.9
262349412015Two Novel NYX Gene Mutations in the Chinese Families with X-linked Congenital Stationary Night Blindness.2
258024852015NYX mutations in four families with high myopia with or without CSNB1.9
262349412015Two Novel NYX Gene Mutations in the Chinese Families with X-linked Congenital Stationary Night Blindness.2
232898092013Electroretinographic findings in a patient with congenital stationary night blindness due to a novel NYX mutation.2
234065212013A novel missense mutation in the NYX gene associated with high myopia.11
237143222013Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.53
232898092013Electroretinographic findings in a patient with congenital stationary night blindness due to a novel NYX mutation.2
234065212013A novel missense mutation in the NYX gene associated with high myopia.11

Citation

Dessen P

NYX (nyctalopin)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71077/nyx-(nyctalopin)