CD248 CD248 molecule

Information
Symbol
CD248
Type
protein-coding
Description
CD248 molecule
Entrez Gene ID
57124
Genome
hg19
Position
chr11:66,081,965-66,084,515
Genome
hg38
Position
chr11:66,314,494-66,317,044
MIM
606064 OMIM
HGNC
HGNC:18219 HGNC
Ensembl
ENSG00000174807 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 22
Likely benign 0 10
Uncertain significance 0 80
Ranking
ClinVar
0
0
0
112
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 :
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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 CD164L1
SYNONYM TEM1
MIM 606064 OMIM
HGNC HGNC:18219 HGNC
Ensembl ENSG00000174807 Ensembl
AllianceGenome HGNC:18219
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000311330.4 hg38 chr11 66,314,494 66,317,044 2,551
ENST00000311330.4 hg19 chr11 66,081,965 66,084,515 2,551
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