PLP1 proteolipid protein 1

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: PLP1
Type: protein-coding
Description: proteolipid protein 1
Entrez Gene ID: 5354
Genome: hg19
Position: chrX:103,031,768-103,047,548
Genome: hg38
Position: chrX:103,776,840-103,792,619
MIM: 300401 OMIM
HGNC: HGNC:9086 HGNC
Ensembl: ENSG00000123560 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	40	136
Likely pathogenic	3	68
Benign	0	66
Likely benign	0	182
Conflicting classifications of pathogenicity	0	12
not provided	6	6
Uncertain significance	0	206

Ranking

	ClinVar
	0
	0
	70
	530
	40

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	GPM6C
SYNONYM	HLD1
SYNONYM	MMPL
SYNONYM	PLP
SYNONYM	PLP/DM20
SYNONYM	PMD
SYNONYM	SPG2
MIM	300401 OMIM
HGNC	HGNC:9086 HGNC
Ensembl	ENSG00000123560 Ensembl
AllianceGenome	HGNC:9086

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000612423.4	hg38	chrX	103,776,511	103,792,616	16,106
ENST00000621218.5	hg38	chrX	103,776,840	103,792,619	15,780
ENST00000619236.1	hg38	chrX	103,776,850	103,792,619	15,770
ENST00000612423.4	hg19	chrX	103,031,439	103,047,545	16,107
ENST00000619236.1	hg19	chrX	103,031,778	103,047,548	15,771
ENST00000621218.5	hg19	chrX	103,031,768	103,047,548	15,781

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