GUCA1A guanylate cyclase activator 1A

Information
Symbol
GUCA1A
Type
protein-coding
Description
guanylate cyclase activator 1A
Entrez Gene ID
2978
Genome
hg19
Position
chr6:42,141,102-42,147,794
Genome
hg38
Position
chr6:42,173,364-42,180,056
MIM
600364 OMIM
HGNC
HGNC:4678 HGNC
Ensembl
ENSG00000048545 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 28
Likely pathogenic 0 34
Benign 2 28
Likely benign 0 128
Conflicting classifications of pathogenicity 0 26
Uncertain significance 0 240
Ranking
ClinVar
0
0
60
368
4
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 C6orf131
SYNONYM COD3
SYNONYM CORD14
SYNONYM GCAP
SYNONYM GCAP-1
SYNONYM GCAP-I
SYNONYM GCAP1
SYNONYM GUCA
SYNONYM GUCA1
MIM 600364 OMIM
HGNC HGNC:4678 HGNC
Ensembl ENSG00000048545 Ensembl
AllianceGenome HGNC:4678
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000679182.1 hg38 chr6 42,178,100 42,181,338 3,239
ENST00000372958.2 hg38 chr6 42,173,364 42,180,056 6,693
ENST00000372958.2 hg19 chr6 42,141,102 42,147,794 6,693
ENST00000679182.1 hg19 chr6 42,145,838 42,149,076 3,239
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