SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1

Information
Symbol
SMARCAD1
Type
protein-coding
Description
SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
Entrez Gene ID
56916
Genome
hg19
Position
chr4:95,128,996-95,211,972
Genome
hg38
Position
chr4:94,207,845-94,290,821
MIM
612761 OMIM
HGNC
HGNC:18398 HGNC
Ensembl
ENSG00000163104 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 14
Likely pathogenic 0 2
Benign 16 44
Likely benign 0 14
Uncertain significance 0 74
Ranking
ClinVar
0
0
12
120
14
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 :
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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 ADERM
SYNONYM BASNS
SYNONYM ETL1
SYNONYM HEL1
SYNONYM HRZ
SYNONYM TYS
MIM 612761 OMIM
HGNC HGNC:18398 HGNC
Ensembl ENSG00000163104 Ensembl
AllianceGenome HGNC:18398
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000354268.9 hg38 chr4 94,207,865 94,291,292 83,428
ENST00000509418.1 hg38 chr4 94,253,294 94,289,704 36,411
ENST00000457823.6 hg38 chr4 94,207,845 94,290,821 82,977
ENST00000457823.6 hg19 chr4 95,128,996 95,211,972 82,977
ENST00000354268.9 hg19 chr4 95,129,016 95,212,443 83,428
ENST00000509418.1 hg19 chr4 95,174,445 95,210,855 36,411
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