ETAA1 ETAA1 activator of ATR kinase

Information
Symbol
ETAA1
Type
protein-coding
Description
ETAA1 activator of ATR kinase
Entrez Gene ID
54465
Genome
hg19
Position
chr2:67,624,465-67,639,221
Genome
hg38
Position
chr2:67,397,333-67,412,089
MIM
613196 OMIM
HGNC
HGNC:24648 HGNC
Ensembl
ENSG00000143971 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 6
Likely benign 0 10
Uncertain significance 0 86
Ranking
ClinVar
0
0
0
102
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
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
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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 ETAA16
MIM 613196 OMIM
HGNC HGNC:24648 HGNC
Ensembl ENSG00000143971 Ensembl
AllianceGenome HGNC:24648
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000272342.6 hg38 chr2 67,397,333 67,412,089 14,757
ENST00000644028.1 hg38 chr2 67,397,324 67,412,089 14,766
ENST00000644028.1 hg19 chr2 67,624,456 67,639,221 14,766
ENST00000272342.6 hg19 chr2 67,624,465 67,639,221 14,757
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