GUCY2C guanylate cyclase 2C

Information
Symbol
GUCY2C
Type
protein-coding
Description
guanylate cyclase 2C
Entrez Gene ID
2984
Genome
hg19
Position
chr12:14,765,566-14,849,533
Genome
hg38
Position
chr12:14,612,632-14,696,599
MIM
601330 OMIM
HGNC
HGNC:4688 HGNC
Ensembl
ENSG00000070019 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 14
Likely pathogenic 0 6
Benign 0 158
Likely benign 0 462
Conflicting classifications of pathogenicity 0 22
Uncertain significance 0 742
Ranking
ClinVar
0
0
128
1,234
10
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
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 DIAR6
SYNONYM GC-C
SYNONYM GCC
SYNONYM GUC2C
SYNONYM HSER
SYNONYM MECIL
SYNONYM MUCIL
SYNONYM STAR
MIM 601330 OMIM
HGNC HGNC:4688 HGNC
Ensembl ENSG00000070019 Ensembl
AllianceGenome HGNC:4688
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000261170.5 hg38 chr12 14,612,632 14,696,599 83,968
ENST00000261170.5 hg19 chr12 14,765,566 14,849,533 83,968
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