GUCA1B guanylate cyclase activator 1B

Information
Symbol
GUCA1B
Type
protein-coding
Description
guanylate cyclase activator 1B
Entrez Gene ID
2979
Genome
hg19
Position
chr6:42,151,022-42,162,694
Genome
hg38
Position
chr6:42,183,284-42,194,956
MIM
602275 OMIM
HGNC
HGNC:4679 HGNC
Ensembl
ENSG00000112599 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 6 66
Likely benign 0 130
Conflicting classifications of pathogenicity 0 20
Uncertain significance 0 214
Ranking
ClinVar
0
0
40
332
0
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 GCAP 2
SYNONYM GCAP-2
SYNONYM GCAP-II
SYNONYM GCAP2
SYNONYM GUCA2
SYNONYM RP48
MIM 602275 OMIM
HGNC HGNC:4679 HGNC
Ensembl ENSG00000112599 Ensembl
AllianceGenome HGNC:4679
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000230361.4 hg38 chr6 42,183,284 42,194,956 11,673
ENST00000230361.4 hg19 chr6 42,151,022 42,162,694 11,673
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