F8A1 coagulation factor VIII associated 1

Information
Symbol
F8A1
Type
protein-coding
Description
coagulation factor VIII associated 1
Entrez Gene ID
8263
Genome
hg19
Position
chrX:154,114,630-154,116,336
Genome
hg38
Position
chrX:154,886,355-154,888,061
MIM
305423 OMIM
HGNC
HGNC:3547 HGNC
Ensembl
ENSG00000288722 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
not provided 7 0
Uncertain significance 0 8
Ranking
ClinVar
0
0
0
10
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
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 DXS522E
SYNONYM F8A
SYNONYM HAP40
MIM 305423 OMIM
HGNC HGNC:3547 HGNC
Ensembl ENSG00000288722 Ensembl
AllianceGenome HGNC:3547
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000610495.2 hg38 chrX 154,886,355 154,888,061 1,707
ENST00000610495.2 hg19 chrX 154,114,630 154,116,336 1,707
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