SYNE4 spectrin repeat containing nuclear envelope family member 4

Information
Symbol
SYNE4
Type
protein-coding
Description
spectrin repeat containing nuclear envelope family member 4
Entrez Gene ID
163183
Genome
hg19
Position
chr19:36,494,209-36,499,715
Genome
hg38
Position
chr19:36,003,307-36,008,813
MIM
615535 OMIM
HGNC
HGNC:26703 HGNC
Ensembl
ENSG00000181392 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 48
Likely pathogenic 0 18
Benign 0 46
Likely benign 0 306
Conflicting classifications of pathogenicity 0 38
not provided 0 2
Uncertain significance 0 106
Ranking
ClinVar
0
0
68
436
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
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
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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 C19orf46
SYNONYM DFNB76
SYNONYM KASH4
SYNONYM Nesp4
MIM 615535 OMIM
HGNC HGNC:26703 HGNC
Ensembl ENSG00000181392 Ensembl
AllianceGenome HGNC:26703
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000340477.9 hg38 chr19 36,003,310 36,008,782 5,473
ENST00000324444.9 hg38 chr19 36,003,307 36,008,813 5,507
ENST00000324444.9 hg19 chr19 36,494,209 36,499,715 5,507
ENST00000340477.9 hg19 chr19 36,494,212 36,499,684 5,473
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