TTLL12 tubulin tyrosine ligase like 12

Information
Symbol
TTLL12
Type
protein-coding
Description
tubulin tyrosine ligase like 12
Entrez Gene ID
23170
Genome
hg19
Position
chr22:43,562,628-43,583,140
Genome
hg38
Position
chr22:43,166,622-43,187,134
MIM
619410 OMIM
HGNC
HGNC:28974 HGNC
Ensembl
ENSG00000100304 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 10
Likely benign 0 28
Uncertain significance 0 94
Ranking
ClinVar
0
0
0
132
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 :
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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 dJ526I14.2
MIM 619410 OMIM
HGNC HGNC:28974 HGNC
Ensembl ENSG00000100304 Ensembl
AllianceGenome HGNC:28974
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000494035.1 hg38 chr22 43,167,603 43,171,750 4,148
ENST00000216129.7 hg38 chr22 43,166,622 43,187,134 20,513
ENST00000216129.7 hg19 chr22 43,562,628 43,583,140 20,513
ENST00000494035.1 hg19 chr22 43,563,609 43,567,756 4,148
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