POF1B POF1B actin binding protein

Information
Symbol
POF1B
Type
protein-coding
Description
POF1B actin binding protein
Entrez Gene ID
79983
Genome
hg19
Position
chrX:84,537,121-84,634,722
Genome
hg38
Position
chrX:85,282,115-85,379,717
MIM
300603 OMIM
HGNC
HGNC:13711 HGNC
Ensembl
ENSG00000124429 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 58
Likely benign 0 32
Conflicting classifications of pathogenicity 0 4
not provided 6 0
Uncertain significance 0 76
Ranking
ClinVar
0
0
24
138
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 POF
SYNONYM POF2B
MIM 300603 OMIM
HGNC HGNC:13711 HGNC
Ensembl ENSG00000124429 Ensembl
AllianceGenome HGNC:13711
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000373145.3 hg38 chrX 85,282,115 85,379,717 97,603
ENST00000262753.9 hg38 chrX 85,277,396 85,379,665 102,270
ENST00000262753.9 hg19 chrX 84,532,402 84,634,670 102,269
ENST00000373145.3 hg19 chrX 84,537,121 84,634,722 97,602
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