RSPH4A radial spoke head component 4A

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Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: RSPH4A
Type: protein-coding
Description: radial spoke head component 4A
Entrez Gene ID: 345895
Genome: hg19
Position: chr6:116,937,642-116,954,148
Genome: hg38
Position: chr6:116,616,479-116,632,985
MIM: 612647 OMIM
HGNC: HGNC:21558 HGNC
Ensembl: ENSG00000111834 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	72
Likely pathogenic	0	18
Benign	0	52
Likely benign	0	162
Conflicting classifications of pathogenicity	0	44
not provided	0	2
Uncertain significance	0	330

Ranking

	ClinVar
	0
	0
	148
	460
	4

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	CILD11
SYNONYM	RSHL3
SYNONYM	RSPH6B
SYNONYM	dJ412I7.1
MIM	612647 OMIM
HGNC	HGNC:21558 HGNC
Ensembl	ENSG00000111834 Ensembl
AllianceGenome	HGNC:21558

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000368581.8	hg38	chr6	116,616,479	116,632,985	16,507
ENST00000368580.4	hg38	chr6	116,616,624	116,632,441	15,818
ENST00000229554.10	hg38	chr6	116,616,479	116,632,985	16,507
ENST00000229554.10	hg19	chr6	116,937,642	116,954,148	16,507
ENST00000368581.8	hg19	chr6	116,937,642	116,954,148	16,507
ENST00000368580.4	hg19	chr6	116,937,787	116,953,604	15,818

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