GUCY2D guanylate cyclase 2D, retinal

Information
Symbol
GUCY2D
Type
protein-coding
Description
guanylate cyclase 2D, retinal
Entrez Gene ID
3000
Genome
hg19
Position
chr17:7,905,933-7,923,660
Genome
hg38
Position
chr17:8,002,615-8,020,342
MIM
600179 OMIM
HGNC
HGNC:4689 HGNC
Ensembl
ENSG00000132518 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 16 262
Likely pathogenic 0 150
Benign 4 78
Likely benign 0 1,198
Conflicting classifications of pathogenicity 0 84
not provided 0 68
Uncertain significance 0 1,008
Ranking
ClinVar
0
0
236
2,286
130
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 CACD
SYNONYM CACD1
SYNONYM CG-E
SYNONYM CORD5
SYNONYM CORD6
SYNONYM CSNB1I
SYNONYM CYGD
SYNONYM GUC1A4
SYNONYM GUC2D
SYNONYM LCA
SYNONYM LCA1
SYNONYM RCD2
SYNONYM RETGC-1
SYNONYM ROS-GC1
SYNONYM ROSGC
SYNONYM retGC
MIM 600179 OMIM
HGNC HGNC:4689 HGNC
Ensembl ENSG00000132518 Ensembl
AllianceGenome HGNC:4689
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000254854.5 hg38 chr17 8,002,615 8,020,342 17,728
ENST00000254854.5 hg19 chr17 7,905,933 7,923,660 17,728
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