SMC1A structural maintenance of chromosomes 1A

Information
Symbol
SMC1A
Type
protein-coding
Description
structural maintenance of chromosomes 1A
Entrez Gene ID
8243
Genome
hg19
Position
chrX:53,401,070-53,449,603
Genome
hg38
Position
chrX:53,374,149-53,422,654
MIM
300040 OMIM
HGNC
HGNC:11111 HGNC
Ensembl
ENSG00000072501 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 228
Likely pathogenic 1 146
Benign 0 157
Likely benign 0 655
Conflicting classifications of pathogenicity 0 76
not provided 22 0
Uncertain significance 0 550
Ranking
ClinVar
0
0
198
1,422
46
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 CDLS2
SYNONYM DEE85
SYNONYM DXS423E
SYNONYM EIEE85
SYNONYM SB1.8
SYNONYM SMC1
SYNONYM SMC1L1
SYNONYM SMC1alpha
SYNONYM SMCB
MIM 300040 OMIM
HGNC HGNC:11111 HGNC
Ensembl ENSG00000072501 Ensembl
AllianceGenome HGNC:11111
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000674590.1 hg38 chrX 53,380,054 53,422,728 42,675
ENST00000675504.1 hg38 chrX 53,374,149 53,422,173 48,025
ENST00000322213.9 hg38 chrX 53,374,149 53,422,654 48,506
ENST00000375340.10 hg38 chrX 53,374,149 53,422,728 48,580
ENST00000675504.1 hg19 chrX 53,401,070 53,449,123 48,054
ENST00000322213.9 hg19 chrX 53,401,070 53,449,603 48,534
ENST00000375340.10 hg19 chrX 53,401,070 53,449,677 48,608
ENST00000674590.1 hg19 chrX 53,406,975 53,449,677 42,703
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