GEMIN8 gem nuclear organelle associated protein 8

Information
Symbol
GEMIN8
Type
protein-coding
Description
gem nuclear organelle associated protein 8
Entrez Gene ID
54960
Genome
hg19
Position
chrX:14,024,867-14,045,288
Genome
hg38
Position
chrX:14,006,748-14,027,169
MIM
300962 OMIM
HGNC
HGNC:26044 HGNC
Ensembl
ENSG00000046647 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 6
Likely benign 0 10
not provided 7 0
Uncertain significance 0 22
Ranking
ClinVar
0
0
0
38
0
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 FAM51A1
MIM 300962 OMIM
HGNC HGNC:26044 HGNC
Ensembl ENSG00000046647 Ensembl
AllianceGenome HGNC:26044
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000477386.2 hg38 chrX 14,006,748 14,027,169 20,422
ENST00000380523.8 hg38 chrX 14,008,279 14,029,892 21,614
ENST00000680255.1 hg38 chrX 14,006,726 14,029,892 23,167
ENST00000398355.7 hg38 chrX 14,008,673 14,029,893 21,221
ENST00000680255.1 hg19 chrX 14,024,845 14,048,011 23,167
ENST00000477386.2 hg19 chrX 14,024,867 14,045,288 20,422
ENST00000380523.8 hg19 chrX 14,026,398 14,048,011 21,614
ENST00000398355.7 hg19 chrX 14,026,792 14,048,012 21,221
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