TTL tubulin tyrosine ligase

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
Locus Zoom
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Information

Symbol: TTL
Type: protein-coding
Description: tubulin tyrosine ligase
Entrez Gene ID: 150465
Genome: hg19
Position: chr2:113,239,733-113,299,316
Genome: hg38
Position: chr2:112,482,156-112,541,739
MIM: 608291 OMIM
HGNC: HGNC:21586 HGNC
Ensembl: ENSG00000114999 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Benign	0	8
Likely benign	0	2
Uncertain significance	0	16

Ranking

	ClinVar
	0
	0
	0
	26
	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
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Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	MGeND				Genome	ClinVar			CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction
Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	Entry	Origin	Type	Annotation	Genome	Entry	Origin	Annotation	CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction

Search Word

Target data	:	MGeND data only
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Name	MGeND				Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

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
Name	Entry	Origin	Type	Annotation	Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Type	ID
MIM	608291 OMIM
HGNC	HGNC:21586 HGNC
Ensembl	ENSG00000114999 Ensembl
AllianceGenome	HGNC:21586

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000233336.7	hg38	chr2	112,482,156	112,541,739	59,584
ENST00000233336.7	hg19	chr2	113,239,733	113,299,316	59,584

Key	Value
strand	+
start	113,239,742
Gene Symbol	TTL
Entrez GeneId	150,465
Chr Band	2q13
end	113,290,221
chr	chr2
Name	tubulin tyrosine ligase

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