OBSL1 obscurin like cytoskeletal adaptor 1

Information
Symbol
OBSL1
Type
protein-coding
Description
obscurin like cytoskeletal adaptor 1
Entrez Gene ID
23363
Genome
hg19
Position
chr2:220,415,450-220,436,261
Genome
hg38
Position
chr2:219,550,728-219,571,539
MIM
610991 OMIM
HGNC
HGNC:29092 HGNC
Ensembl
ENSG00000124006 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 52
Likely pathogenic 0 44
Benign 0 238
Likely benign 0 558
Conflicting classifications of pathogenicity 0 148
no classification for the single variant 0 2
not provided 1 0
Uncertain significance 0 1,128
Ranking
ClinVar
0
0
440
1,518
18
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
MIM 610991 OMIM
HGNC HGNC:29092 HGNC
Ensembl ENSG00000124006 Ensembl
AllianceGenome HGNC:29092
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000404537.6 hg38 chr2 219,550,728 219,571,539 20,812
ENST00000373873.8 hg38 chr2 219,561,722 219,571,289 9,568
ENST00000373876.5 hg38 chr2 219,550,756 219,571,241 20,486
ENST00000603926.5 hg38 chr2 219,555,166 219,571,289 16,124
ENST00000289656.3 hg38 chr2 219,561,747 219,571,464 9,718
ENST00000404537.6 hg19 chr2 220,415,450 220,436,261 20,812
ENST00000373876.5 hg19 chr2 220,415,478 220,435,963 20,486
ENST00000603926.5 hg19 chr2 220,419,888 220,436,011 16,124
ENST00000373873.8 hg19 chr2 220,426,444 220,436,011 9,568
ENST00000289656.3 hg19 chr2 220,426,469 220,436,186 9,718
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