ABRAXAS1 abraxas 1, BRCA1 A complex subunit

Information
Symbol
ABRAXAS1
Type
protein-coding
Description
abraxas 1, BRCA1 A complex subunit
Entrez Gene ID
84142
Genome
hg19
Position
chr4:84,380,670-84,406,253
Genome
hg38
Position
chr4:83,459,517-83,485,100
MIM
611143 OMIM
HGNC
HGNC:25829 HGNC
Ensembl
ENSG00000163322 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 96
Likely benign 0 440
Conflicting classifications of pathogenicity 0 56
not provided 17 0
Uncertain significance 3 900
Ranking
ClinVar
0
0
420
978
16
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 ABRA1
SYNONYM CCDC98
SYNONYM FAM175A
MIM 611143 OMIM
HGNC HGNC:25829 HGNC
Ensembl ENSG00000163322 Ensembl
AllianceGenome HGNC:25829
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000515303.2 hg38 chr4 83,478,808 83,485,065 6,258
ENST00000506553.5 hg38 chr4 83,462,009 83,485,555 23,547
ENST00000321945.12 hg38 chr4 83,459,517 83,485,100 25,584
ENST00000321945.12 hg19 chr4 84,380,670 84,406,253 25,584
ENST00000506553.5 hg19 chr4 84,383,162 84,406,708 23,547
ENST00000515303.2 hg19 chr4 84,399,961 84,406,218 6,258
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