SMC1B structural maintenance of chromosomes 1B

Information
Symbol
SMC1B
Type
protein-coding
Description
structural maintenance of chromosomes 1B
Entrez Gene ID
27127
Genome
hg19
Position
chr22:45,739,944-45,809,480
Genome
hg38
Position
chr22:45,344,063-45,413,599
MIM
608685 OMIM
HGNC
HGNC:11112 HGNC
Ensembl
ENSG00000077935 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 2
Benign 0 12
Likely benign 0 10
not provided 1 0
Uncertain significance 0 82
Ranking
ClinVar
0
0
0
102
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 SMC1BETA
SYNONYM SMC1L2
MIM 608685 OMIM
HGNC HGNC:11112 HGNC
Ensembl ENSG00000077935 Ensembl
AllianceGenome HGNC:11112
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000404354.3 hg38 chr22 45,344,458 45,413,619 69,162
ENST00000357450.9 hg38 chr22 45,344,063 45,413,599 69,537
ENST00000357450.9 hg19 chr22 45,739,944 45,809,480 69,537
ENST00000404354.3 hg19 chr22 45,740,339 45,809,500 69,162
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