TECTA tectorin alpha

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: TECTA
Type: protein-coding
Description: tectorin alpha
Entrez Gene ID: 7007
Genome: hg19
Position: chr11:120,971,952-121,062,199
Genome: hg38
Position: chr11:121,101,243-121,191,490
MIM: 602574 OMIM
HGNC: HGNC:11720 HGNC
Ensembl: ENSG00000109927 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	28	106
Likely pathogenic	4	86
Benign	0	182
Likely benign	0	456
Conflicting classifications of pathogenicity	0	242
no classification for the single variant	0	2
Uncertain significance	0	1,006

Ranking

	ClinVar
	0
	20
	322
	1,384
	50

Frequency

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

Disease area statistics

Locus Zoom

Variants

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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

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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	DFNA12
SYNONYM	DFNA8
SYNONYM	DFNB21
MIM	602574 OMIM
HGNC	HGNC:11720 HGNC
Ensembl	ENSG00000109927 Ensembl
AllianceGenome	HGNC:11720

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000264037.2	hg38	chr11	121,102,666	121,190,806	88,141
ENST00000392793.6	hg38	chr11	121,101,243	121,191,490	90,248
ENST00000642222.1	hg38	chr11	121,101,379	121,191,450	90,072
ENST00000392793.6	hg19	chr11	120,971,952	121,062,199	90,248
ENST00000642222.1	hg19	chr11	120,972,088	121,062,159	90,072
ENST00000264037.2	hg19	chr11	120,973,375	121,061,515	88,141

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