FANCB FA complementation group B

Information
Symbol
FANCB
Type
protein-coding
Description
FA complementation group B
Entrez Gene ID
2187
Genome
hg19
Position
chrX:14,813,168-14,891,377
Genome
hg38
Position
chrX:14,795,046-14,873,255
MIM
300515 OMIM
HGNC
HGNC:3583 HGNC
Ensembl
ENSG00000181544 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 38
Likely pathogenic 0 10
Benign 0 134
Likely benign 0 494
Conflicting classifications of pathogenicity 0 72
not provided 7 0
Uncertain significance 3 510
Ranking
ClinVar
0
0
170
932
34
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 FA2
SYNONYM FAAP90
SYNONYM FAAP95
SYNONYM FAB
SYNONYM FACB
MIM 300515 OMIM
HGNC HGNC:3583 HGNC
Ensembl ENSG00000181544 Ensembl
AllianceGenome HGNC:3583
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000650831.1 hg38 chrX 14,843,405 14,873,069 29,665
ENST00000696354.1 hg38 chrX 14,796,729 14,873,057 76,329
ENST00000696353.1 hg38 chrX 14,795,046 14,873,255 78,210
ENST00000696357.1 hg38 chrX 14,843,419 14,873,238 29,820
ENST00000696356.1 hg38 chrX 14,842,773 14,873,059 30,287
ENST00000452869.2 hg38 chrX 14,834,150 14,873,255 39,106
ENST00000696312.1 hg38 chrX 14,840,184 14,873,064 32,881
ENST00000696311.1 hg38 chrX 14,835,961 14,873,064 37,104
ENST00000324138.7 hg38 chrX 14,843,407 14,873,069 29,663
ENST00000452869.2 hg19 chrX 14,852,272 14,891,377 39,106
ENST00000696312.1 hg19 chrX 14,858,306 14,891,186 32,881
ENST00000324138.7 hg19 chrX 14,861,529 14,891,191 29,663
ENST00000650831.1 hg19 chrX 14,861,527 14,891,191 29,665
ENST00000696311.1 hg19 chrX 14,854,083 14,891,186 37,104
ENST00000696353.1 hg19 chrX 14,813,168 14,891,377 78,210
ENST00000696354.1 hg19 chrX 14,814,851 14,891,179 76,329
ENST00000696356.1 hg19 chrX 14,860,895 14,891,181 30,287
ENST00000696357.1 hg19 chrX 14,861,541 14,891,360 29,820
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