RPL36A-HNRNPH2 RPL36A-HNRNPH2 readthrough

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

Symbol: RPL36A-HNRNPH2
Type: protein-coding
Description: RPL36A-HNRNPH2 readthrough
Entrez Gene ID: 100529097
Genome: hg19
Position: chrX:100,646,000-100,667,153
Genome: hg38
Position: chrX:101,391,012-101,412,165
HGNC: HGNC:48349 HGNC
Ensembl: ENSG00000257529 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	1,228	594
Likely pathogenic	4	358
Benign	2	80
Likely benign	0	414
Conflicting classifications of pathogenicity	0	158
Conflicting classifications of pathogenicity; other	0	2
Likely pathogenic; drug response	0	8
no classification for the single variant	0	6
not provided	7	0
Pathogenic; drug response	0	30
Uncertain significance	4	550
Uncertain significance; drug response	0	8

Ranking

	ClinVar
	0
	0
	634
	1,166
	102

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	:
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
HGNC	HGNC:48349 HGNC
Ensembl	ENSG00000257529 Ensembl
AllianceGenome	HGNC:48349

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000409338.5	hg38	chrX	101,391,011	101,412,297	21,287
ENST00000409170.3	hg38	chrX	101,391,012	101,412,165	21,154
ENST00000409338.5	hg19	chrX	100,645,999	100,667,285	21,287
ENST00000409170.3	hg19	chrX	100,646,000	100,667,153	21,154

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