MSH5 mutS homolog 5

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: MSH5
Type: protein-coding
Description: mutS homolog 5
Entrez Gene ID: 4439
Genome: hg19
Position: chr6:31,707,798-31,730,453
Genome: hg38
Position: chr6:31,740,021-31,762,676
MIM: 603382 OMIM
HGNC: HGNC:7328 HGNC
Ensembl: ENSG00000204410 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	8
Likely pathogenic	0	6
Benign	0	16
Likely benign	0	18
not provided	10	0
Uncertain significance	0	70

Ranking

	ClinVar
	0
	0
	8
	100
	6

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
Category	:
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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	G7
SYNONYM	MUTSH5
SYNONYM	NG23
SYNONYM	POF13
SYNONYM	SPGF74
MIM	603382 OMIM
HGNC	HGNC:7328 HGNC
Ensembl	ENSG00000204410 Ensembl
AllianceGenome	HGNC:7328

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000375750.9	hg38	chr6	31,740,005	31,762,676	22,672
ENST00000375755.8	hg38	chr6	31,739,948	31,762,676	22,729
ENST00000375740.7	hg38	chr6	31,740,021	31,762,676	22,656
ENST00000375703.7	hg38	chr6	31,740,021	31,762,676	22,656
ENST00000375755.8	hg19	chr6	31,707,725	31,730,453	22,729
ENST00000375750.9	hg19	chr6	31,707,782	31,730,453	22,672
ENST00000375703.7	hg19	chr6	31,707,798	31,730,453	22,656
ENST00000375740.7	hg19	chr6	31,707,798	31,730,453	22,656

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