SPTBN4 spectrin beta, non-erythrocytic 4

Information
Symbol
SPTBN4
Type
protein-coding
Description
spectrin beta, non-erythrocytic 4
Entrez Gene ID
57731
Genome
hg19
Position
chr19:40,972,908-41,082,370
Genome
hg38
Position
chr19:40,467,001-40,576,464
MIM
606214 OMIM
HGNC
HGNC:14896 HGNC
Ensembl
ENSG00000160460 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 26
Likely pathogenic 0 20
Benign 0 120
Likely benign 0 166
Conflicting classifications of pathogenicity 0 10
Uncertain significance 0 434
Ranking
ClinVar
0
0
96
642
10
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 :
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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 CMND
SYNONYM NEDHND
SYNONYM QV
SYNONYM SPNB4
SYNONYM SPTBN3
MIM 606214 OMIM
HGNC HGNC:14896 HGNC
Ensembl ENSG00000160460 Ensembl
AllianceGenome HGNC:14896
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000595535.5 hg38 chr19 40,466,241 40,560,507 94,267
ENST00000392023.1 hg38 chr19 40,530,488 40,560,752 30,265
ENST00000352632.7 hg38 chr19 40,466,241 40,576,464 110,224
ENST00000598249.6 hg38 chr19 40,467,001 40,576,464 109,464
ENST00000595535.5 hg19 chr19 40,972,148 41,066,413 94,266
ENST00000352632.7 hg19 chr19 40,972,148 41,082,370 110,223
ENST00000598249.6 hg19 chr19 40,972,908 41,082,370 109,463
ENST00000392023.1 hg19 chr19 41,036,395 41,066,658 30,264
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