chr1:2406711:C>T Detail (hg38) (PEX10)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr1:2,338,150-2,338,150 View the variant detail on this assembly version.
hg38	chr1:2,406,711-2,406,711

HGVS

PEX10

Type	Transcript	Protein
RefSeq	NM_002617.3:c.776+9G>A
	NM_153818.1:c.776+9G>A
Ensemble	ENST00000288774.8:c.836+9G>A
	ENST00000447513.7:c.776+9G>A
	ENST00000507596.5:c.776+9G>A

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Likely benign
Review star
Show details

Links

PEX10

Type	Database	ID	Link
Gene	MIM	602859	OMIM
	HGNC	8851	HGNC
	Ensembl	ENSG00000157911	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv239624809	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely benign	2024-01-30	criteria provided, single submitter	Peroxisome biogenesis disorder, complementation group 7	germline	Detail
Uncertain significance	2020-03-17	no assertion criteria provided	Zellweger spectrum disorders	germline	Detail
Likely benign	2023-10-26	criteria provided, single submitter	PEX10-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_002617.4(PEX10):c.776+9G>A AND Peroxisome biogenesis disorder, complementation group 7	ClinVar	Detail
NM_002617.4(PEX10):c.776+9G>A AND Zellweger spectrum disorders	ClinVar	Detail
NM_002617.4(PEX10):c.776+9G>A AND PEX10-related disorder	ClinVar	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs528387404 dbSNP
Genome: hg38
Position: chr1:2,406,711-2,406,711
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 6950
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 94258
Allele Counts in All Race (ExAC): 13
Heterozygous Counts in All Race (ExAC): 13
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.3791932780241465E-4

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