TTLL1 TTL family tubulin polyglutamylase complex subunit L1

Information
Symbol
TTLL1
Type
protein-coding
Description
TTL family tubulin polyglutamylase complex subunit L1
Entrez Gene ID
25809
Genome
hg19
Position
chr22:43,435,522-43,485,397
Genome
hg38
Position
chr22:43,039,516-43,089,391
MIM
608955 OMIM
HGNC
HGNC:1312 HGNC
Ensembl
ENSG00000100271 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 12
Uncertain significance 0 30
Ranking
ClinVar
0
0
0
42
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 C22orf7
SYNONYM HS323M22B
SYNONYM TPGS3
MIM 608955 OMIM
HGNC HGNC:1312 HGNC
Ensembl ENSG00000100271 Ensembl
AllianceGenome HGNC:1312
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000266254.12 hg38 chr22 43,039,516 43,089,391 49,876
ENST00000331018.8 hg38 chr22 43,039,776 43,075,586 35,811
ENST00000266254.12 hg19 chr22 43,435,522 43,485,397 49,876
ENST00000331018.8 hg19 chr22 43,435,782 43,471,592 35,811
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