CLDN5 claudin 5

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: CLDN5
Type: protein-coding
Description: claudin 5
Entrez Gene ID: 7122
Genome: hg19
Position: chr22:19,510,547-19,515,068
Genome: hg38
Position: chr22:19,523,024-19,527,545
MIM: 602101 OMIM
HGNC: HGNC:2047 HGNC
Ensembl: ENSG00000184113 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	2
Likely pathogenic	0	4
Benign	0	4
not provided	14	0
Uncertain significance	0	14

Ranking

	ClinVar
	0
	0
	0
	22
	2

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

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
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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	AWAL
SYNONYM	BEC1
SYNONYM	CPETRL1
SYNONYM	TMDVCF
SYNONYM	TMVCF
MIM	602101 OMIM
HGNC	HGNC:2047 HGNC
Ensembl	ENSG00000184113 Ensembl
AllianceGenome	HGNC:2047

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000413119.2	hg38	chr22	19,523,052	19,525,423	2,372
ENST00000618236.2	hg38	chr22	19,523,027	19,524,410	1,384
ENST00000403084.1	hg38	chr22	19,523,027	19,525,383	2,357
ENST00000406028.1	hg38	chr22	19,523,024	19,527,545	4,522
ENST00000406028.1	hg19	chr22	19,510,547	19,515,068	4,522
ENST00000618236.2	hg19	chr22	19,510,550	19,511,933	1,384
ENST00000403084.1	hg19	chr22	19,510,550	19,512,906	2,357
ENST00000413119.2	hg19	chr22	19,510,575	19,512,946	2,372

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