SYMPK symplekin scaffold protein

Information
Symbol
SYMPK
Type
protein-coding
Description
symplekin scaffold protein
Entrez Gene ID
8189
Genome
hg19
Position
chr19:46,318,668-46,366,483
Genome
hg38
Position
chr19:45,815,410-45,863,225
MIM
602388 OMIM
HGNC
HGNC:22935 HGNC
Ensembl
ENSG00000125755 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 6 0
Benign 0 2
Likely benign 0 8
Uncertain significance 0 98
Ranking
ClinVar
0
0
0
108
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 Pta1
SYNONYM SPK
SYNONYM SYM
MIM 602388 OMIM
HGNC HGNC:22935 HGNC
Ensembl ENSG00000125755 Ensembl
AllianceGenome HGNC:22935
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000599460.5 hg38 chr19 45,818,913 45,863,130 44,218
ENST00000715464.1 hg38 chr19 45,815,410 45,863,225 47,816
ENST00000245934.12 hg38 chr19 45,815,410 45,863,147 47,738
ENST00000599814.5 hg38 chr19 45,818,955 45,855,710 36,756
ENST00000245934.12 hg19 chr19 46,318,668 46,366,405 47,738
ENST00000599814.5 hg19 chr19 46,322,213 46,358,968 36,756
ENST00000599460.5 hg19 chr19 46,322,171 46,366,388 44,218
ENST00000715464.1 hg19 chr19 46,318,668 46,366,483 47,816
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