ISL1 ISL LIM homeobox 1

Information
Symbol
ISL1
Type
protein-coding
Description
ISL LIM homeobox 1
Entrez Gene ID
3670
Genome
hg19
Position
chr5:50,679,282-50,690,564
Genome
hg38
Position
chr5:51,383,448-51,394,730
MIM
600366 OMIM
HGNC
HGNC:6132 HGNC
Ensembl
ENSG00000016082 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 8
Likely benign 0 28
Uncertain significance 0 42
Ranking
ClinVar
0
0
6
70
2
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 ISLET1
SYNONYM Isl-1
MIM 600366 OMIM
HGNC HGNC:6132 HGNC
Ensembl ENSG00000016082 Ensembl
AllianceGenome HGNC:6132
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000511384.1 hg38 chr5 51,383,672 51,393,610 9,939
ENST00000230658.12 hg38 chr5 51,383,448 51,394,730 11,283
ENST00000230658.12 hg19 chr5 50,679,282 50,690,564 11,283
ENST00000511384.1 hg19 chr5 50,679,506 50,689,444 9,939
Genome browser