PFN1 profilin 1

Information
Symbol
PFN1
Type
protein-coding
Description
profilin 1
Entrez Gene ID
5216
Genome
hg19
Position
chr17:4,848,947-4,851,825
Genome
hg38
Position
chr17:4,945,652-4,948,530
MIM
176610 OMIM
HGNC
HGNC:8881 HGNC
Ensembl
ENSG00000108518 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 6
Likely pathogenic 0 4
Benign 0 22
Likely benign 0 62
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 58
Ranking
ClinVar
0
0
20
124
6
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 :
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 ALS18
MIM 176610 OMIM
HGNC HGNC:8881 HGNC
Ensembl ENSG00000108518 Ensembl
AllianceGenome HGNC:8881
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000574872.1 hg38 chr17 4,945,667 4,947,469 1,803
ENST00000225655.6 hg38 chr17 4,945,652 4,948,530 2,879
ENST00000225655.6 hg19 chr17 4,848,947 4,851,825 2,879
ENST00000574872.1 hg19 chr17 4,848,962 4,850,764 1,803
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