LOC128092249 uncharacterized LOC128092249

Information
Symbol
LOC128092249
Type
protein-coding
Description
uncharacterized LOC128092249
Entrez Gene ID
128092249
Genome
hg19
Position
chr21:47,746,202-47,746,405
Genome
hg38
Position
chr21:46,326,288-46,326,491
Ensembl
ENSG00000286224 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Benign 0 2
Likely benign 0 52
Conflicting classifications of pathogenicity 0 4
Uncertain significance 0 8
Ranking
ClinVar
0
0
8
56
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
[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
Ensembl ENSG00000286224 Ensembl
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000652508.1 hg38 chr21 46,326,288 46,326,491 204
ENST00000652508.1 hg19 chr21 47,746,202 47,746,405 204
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