POLR1H RNA polymerase I subunit H

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

Symbol: POLR1H
Type: protein-coding
Description: RNA polymerase I subunit H
Entrez Gene ID: 30834
Genome: hg19
Position: chr6:30,029,042-30,032,684
Genome: hg38
Position: chr6:30,061,265-30,064,907
MIM: 607525 OMIM
HGNC: HGNC:13182 HGNC
Ensembl: ENSG00000066379 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
not provided	2	0
Uncertain significance	0	8

Ranking

	ClinVar
	0
	0
	0
	8
	0

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

Search Word

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	:
Search word	:
Filtering	:

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	A12.2
SYNONYM	HTEX-6
SYNONYM	HTEX6
SYNONYM	Rpa12
SYNONYM	TCTEX6
SYNONYM	TEX6
SYNONYM	ZNRD1
SYNONYM	ZR14
SYNONYM	hZR14
SYNONYM	tctex-6
MIM	607525 OMIM
HGNC	HGNC:13182 HGNC
Ensembl	ENSG00000066379 Ensembl
AllianceGenome	HGNC:13182

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000359374.8	hg38	chr6	30,061,259	30,064,909	3,651
ENST00000332435.10	hg38	chr6	30,061,265	30,064,907	3,643
ENST00000376782.6	hg38	chr6	30,061,257	30,064,909	3,653
ENST00000376785.2	hg38	chr6	30,061,263	30,064,909	3,647
ENST00000376782.6	hg19	chr6	30,029,034	30,032,686	3,653
ENST00000359374.8	hg19	chr6	30,029,036	30,032,686	3,651
ENST00000376785.2	hg19	chr6	30,029,040	30,032,686	3,647
ENST00000332435.10	hg19	chr6	30,029,042	30,032,684	3,643

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