TPH1 tryptophan hydroxylase 1

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Clinical Significance
Ranking
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Information

Symbol: TPH1
Type: protein-coding
Description: tryptophan hydroxylase 1
Entrez Gene ID: 7166
Genome: hg19
Position: chr11:18,039,111-18,062,872
Genome: hg38
Position: chr11:18,017,564-18,041,325
MIM: 191060 OMIM
HGNC: HGNC:12008 HGNC
Ensembl: ENSG00000129167 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Benign	0	8
Likely benign	0	2
Conflicting classifications of pathogenicity	0	2
Uncertain significance	0	38

Ranking

	ClinVar
	0
	0
	0
	48
	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

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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

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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

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Target data	:	MGeND data only
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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
SYNONYM	TPRH
SYNONYM	TRPH
MIM	191060 OMIM
HGNC	HGNC:12008 HGNC
Ensembl	ENSG00000129167 Ensembl
AllianceGenome	HGNC:12008

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000528338.2	hg38	chr11	18,017,555	18,042,426	24,872
ENST00000250018.6	hg38	chr11	18,017,564	18,041,325	23,762
ENST00000714230.1	hg38	chr11	18,019,060	18,046,269	27,210
ENST00000682019.1	hg38	chr11	18,017,555	18,046,269	28,715
ENST00000528338.2	hg19	chr11	18,039,102	18,063,973	24,872
ENST00000682019.1	hg19	chr11	18,039,102	18,067,816	28,715
ENST00000250018.6	hg19	chr11	18,039,111	18,062,872	23,762
ENST00000714230.1	hg19	chr11	18,040,607	18,067,816	27,210

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