PLS1 plastin 1

Information
Symbol
PLS1
Type
protein-coding
Description
plastin 1
Entrez Gene ID
5357
Genome
hg19
Position
chr3:142,342,228-142,432,501
Genome
hg38
Position
chr3:142,623,386-142,713,659
MIM
602734 OMIM
HGNC
HGNC:9090 HGNC
Ensembl
ENSG00000120756 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Likely pathogenic 0 2
Benign 0 54
Likely benign 0 16
Conflicting classifications of pathogenicity 0 6
not provided 1 0
Uncertain significance 0 88
Ranking
ClinVar
0
0
22
132
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
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 DFNA76
MIM 602734 OMIM
HGNC HGNC:9090 HGNC
Ensembl ENSG00000120756 Ensembl
AllianceGenome HGNC:9090
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000457734.7 hg38 chr3 142,596,393 142,713,664 117,272
ENST00000497002.1 hg38 chr3 142,656,897 142,712,055 55,159
ENST00000337777.7 hg38 chr3 142,623,386 142,713,659 90,274
ENST00000457734.7 hg19 chr3 142,315,235 142,432,506 117,272
ENST00000337777.7 hg19 chr3 142,342,228 142,432,501 90,274
ENST00000497002.1 hg19 chr3 142,375,739 142,430,897 55,159
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