F5 coagulation factor V

Information
Symbol
F5
Type
protein-coding
Description
coagulation factor V
Entrez Gene ID
2153
Genome
hg19
Position
chr1:169,481,189-169,555,719
Genome
hg38
Position
chr1:169,511,951-169,586,481
MIM
612309 OMIM
HGNC
HGNC:3542 HGNC
Ensembl
ENSG00000198734 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 102
Likely pathogenic 0 54
Benign 0 314
Likely benign 0 974
Conflicting classifications of pathogenicity 0 161
drug response 0 1
Uncertain significance 0 568
Ranking
ClinVar
0
1
242
1,606
32
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 FVL
SYNONYM PCCF
SYNONYM RPRGL1
SYNONYM THPH2
MIM 612309 OMIM
HGNC HGNC:3542 HGNC
Ensembl ENSG00000198734 Ensembl
AllianceGenome HGNC:3542
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000367797.9 hg38 chr1 169,511,951 169,586,481 74,531
ENST00000367796.3 hg38 chr1 169,514,166 169,586,588 72,423
ENST00000367797.9 hg19 chr1 169,481,189 169,555,719 74,531
ENST00000367796.3 hg19 chr1 169,483,404 169,555,826 72,423
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