NYX nyctalopin

Information
Symbol
NYX
Type
protein-coding
Description
nyctalopin
Entrez Gene ID
60506
Genome
hg19
Position
chrX:41,306,687-41,334,963
Genome
hg38
Position
chrX:41,447,434-41,475,710
MIM
300278 OMIM
HGNC
HGNC:8082 HGNC
Ensembl
ENSG00000188937 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 52
Likely pathogenic 0 22
Benign 0 34
Likely benign 0 168
Conflicting classifications of pathogenicity 0 18
not provided 6 28
Uncertain significance 0 442
Ranking
ClinVar
0
0
66
614
24
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM CLRP
SYNONYM CSNB1
SYNONYM CSNB1A
SYNONYM CSNB4
SYNONYM NBM1
MIM 300278 OMIM
HGNC HGNC:8082 HGNC
Ensembl ENSG00000188937 Ensembl
AllianceGenome HGNC:8082
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000342595.3 hg38 chrX 41,447,434 41,475,710 28,277
ENST00000378220.3 hg38 chrX 41,447,343 41,475,652 28,310
ENST00000378220.3 hg19 chrX 41,306,596 41,334,905 28,310
ENST00000342595.3 hg19 chrX 41,306,687 41,334,963 28,277
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