COL4A5 collagen type IV alpha 5 chain

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
Locus Zoom
Variants
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Information

Symbol: COL4A5
Type: protein-coding
Description: collagen type IV alpha 5 chain
Entrez Gene ID: 1287
Genome: hg19
Position: chrX:107,683,068-107,940,775
Genome: hg38
Position: chrX:108,439,838-108,697,545
MIM: 303630 OMIM
HGNC: HGNC:2207 HGNC
Ensembl: ENSG00000188153 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	428	1,116
Likely pathogenic	0	1,118
Benign	0	384
Likely benign	0	1,790
Conflicting classifications of pathogenicity	0	136
not provided	6	0
Uncertain significance	0	634

Ranking

	ClinVar
	0
	0
	632
	3,898
	240

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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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	ASLN
SYNONYM	ATS
SYNONYM	ATS1
SYNONYM	CA54
MIM	303630 OMIM
HGNC	HGNC:2207 HGNC
Ensembl	ENSG00000188153 Ensembl
AllianceGenome	HGNC:2207

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000483338.1	hg38	chrX	108,582,492	108,627,269	44,778
ENST00000361603.7	hg38	chrX	108,439,924	108,697,545	257,622
ENST00000328300.11	hg38	chrX	108,439,838	108,697,545	257,708
ENST00000328300.11	hg19	chrX	107,683,068	107,940,775	257,708
ENST00000361603.7	hg19	chrX	107,683,154	107,940,775	257,622
ENST00000483338.1	hg19	chrX	107,825,722	107,870,499	44,778

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