ORAI1 ORAI calcium release-activated calcium modulator 1

Information
Symbol
ORAI1
Type
protein-coding
Description
ORAI calcium release-activated calcium modulator 1
Entrez Gene ID
84876
Genome
hg19
Position
chr12:122,064,455-122,079,946
Genome
hg38
Position
chr12:121,626,550-121,642,040
MIM
610277 OMIM
HGNC
HGNC:25896 HGNC
Ensembl
ENSG00000276045 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 18
Likely pathogenic 2 16
Benign 0 34
Likely benign 0 221
Conflicting classifications of pathogenicity 0 10
Uncertain significance 0 405
Ranking
ClinVar
0
0
53
621
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
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
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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 CRACM1
SYNONYM IMD9
SYNONYM ORAT1
SYNONYM TAM2
SYNONYM TMEM142A
MIM 610277 OMIM
HGNC HGNC:25896 HGNC
Ensembl ENSG00000276045 Ensembl
AllianceGenome HGNC:25896
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000617316.2 hg38 chr12 121,626,550 121,642,040 15,491
ENST00000617316.2 hg19 chr12 122,064,455 122,079,946 15,492
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