SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1

Information
Symbol
SMARCAL1
Type
protein-coding
Description
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1
Entrez Gene ID
50485
Genome
hg19
Position
chr2:217,277,233-217,347,759
Genome
hg38
Position
chr2:216,412,510-216,483,036
MIM
606622 OMIM
HGNC
HGNC:11102 HGNC
Ensembl
ENSG00000138375 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 198
Likely pathogenic 0 70
Benign 0 124
Likely benign 0 1,182
Conflicting classifications of pathogenicity 0 96
Uncertain significance 0 576
Ranking
ClinVar
0
0
282
1,800
26
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 :
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 HARP
SYNONYM HHARP
MIM 606622 OMIM
HGNC HGNC:11102 HGNC
Ensembl ENSG00000138375 Ensembl
AllianceGenome HGNC:11102
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000697906.1 hg38 chr2 216,412,750 216,483,028 70,279
ENST00000357276.9 hg38 chr2 216,412,484 216,483,053 70,570
ENST00000430374.6 hg38 chr2 216,412,414 216,483,037 70,624
ENST00000358207.9 hg38 chr2 216,412,743 216,483,017 70,275
ENST00000425815.6 hg38 chr2 216,412,561 216,483,036 70,476
ENST00000697899.1 hg38 chr2 216,412,459 216,483,038 70,580
ENST00000444508.6 hg38 chr2 216,412,510 216,483,036 70,527
ENST00000357276.9 hg19 chr2 217,277,207 217,347,776 70,570
ENST00000425815.6 hg19 chr2 217,277,284 217,347,759 70,476
ENST00000358207.9 hg19 chr2 217,277,466 217,347,740 70,275
ENST00000430374.6 hg19 chr2 217,277,137 217,347,760 70,624
ENST00000444508.6 hg19 chr2 217,277,233 217,347,759 70,527
ENST00000697899.1 hg19 chr2 217,277,182 217,347,761 70,580
ENST00000697906.1 hg19 chr2 217,277,473 217,347,751 70,279
Genome browser