TAMALIN trafficking regulator and scaffold protein tamalin

Information
Symbol
TAMALIN
Type
protein-coding
Description
trafficking regulator and scaffold protein tamalin
Entrez Gene ID
160622
Genome
hg19
Position
chr12:52,400,730-52,409,673
Genome
hg38
Position
chr12:52,006,946-52,015,889
MIM
612027 OMIM
HGNC
HGNC:18707 HGNC
Ensembl
ENSG00000161835 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 4
Uncertain significance 0 60
Ranking
ClinVar
0
0
0
66
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 :
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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 GRASP
MIM 612027 OMIM
HGNC HGNC:18707 HGNC
Ensembl ENSG00000161835 Ensembl
AllianceGenome HGNC:18707
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000552049.5 hg38 chr12 52,010,521 52,015,887 5,367
ENST00000293662.9 hg38 chr12 52,006,946 52,015,889 8,944
ENST00000293662.9 hg19 chr12 52,400,730 52,409,673 8,944
ENST00000552049.5 hg19 chr12 52,404,305 52,409,671 5,367
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