SIX5 SIX homeobox 5

Information
Symbol
SIX5
Type
protein-coding
Description
SIX homeobox 5
Entrez Gene ID
147912
Genome
hg19
Position
chr19:46,268,043-46,272,510
Genome
hg38
Position
chr19:45,764,785-45,769,252
MIM
600963 OMIM
HGNC
HGNC:10891 HGNC
Ensembl
ENSG00000177045 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Benign 2 58
Likely benign 0 260
Conflicting classifications of pathogenicity 0 28
not provided 0 2
Uncertain significance 0 356
Ranking
ClinVar
0
0
138
512
4
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
SYNONYM BOR2
SYNONYM DMAHP
MIM 600963 OMIM
HGNC HGNC:10891 HGNC
Ensembl ENSG00000177045 Ensembl
AllianceGenome HGNC:10891
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000560168.1 hg38 chr19 45,765,393 45,768,855 3,463
ENST00000317578.7 hg38 chr19 45,764,785 45,769,252 4,468
ENST00000317578.7 hg19 chr19 46,268,043 46,272,510 4,468
ENST00000560168.1 hg19 chr19 46,268,651 46,272,113 3,463
Genome browser