chr8:77896133:TCTCA> Detail (hg19) (PEX2)

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

Genome

Assembly	Position
hg19	chr8:77,896,133-77,896,137
hg38	chr8:76,983,897-76,983,901

HGVS

PEX2

Type	Transcript	Protein
RefSeq	NM_000318.2:c.278_282delTGAGA	NP_000309.1:p.Arg94SerfsTer5
	NM_001172087.1:c.278_282delTGAGA	NP_001165558.1:p.Arg94SerfsTer5
	NM_001079867.1:c.278_282delTGAGA	NP_001073336.1:p.Arg94SerfsTer5
Ensemble	ENST00000357039.9:c.278_282delTGAGA	ENST00000357039.9:p.Arg94SerfsTer5
	ENST00000520103.5:c.278_282delTGAGA	ENST00000520103.5:p.Arg94SerfsTer5
	ENST00000522527.5:c.278_282delTGAGA	ENST00000522527.5:p.Arg94SerfsTer5

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	Pathogenic
Review star
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Links

PEX2

Type	Database	ID	Link
Gene	MIM	170993	OMIM
	HGNC	9717	HGNC
	Ensembl	ENSG00000164751	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2024-01-31	criteria provided, multiple submitters, no conflicts	Peroxisome biogenesis disorder 5A (Zellweger)	germline unknown	Detail
Pathogenic	2018-05-03	criteria provided, single submitter	Peroxisome biogenesis disorder	germline	Detail
Pathogenic	2020-09-16	no assertion criteria provided	Zellweger spectrum disorders	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.200	Peroxisome biogenesis disorder 5A (Zellweger)	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000318.3(PEX2):c.279_283del (p.Arg94fs) AND Peroxisome biogenesis disorder 5A (Zellweger)	ClinVar	Detail
NM_000318.3(PEX2):c.279_283del (p.Arg94fs) AND Peroxisome biogenesis disorder	ClinVar	Detail
NM_000318.3(PEX2):c.279_283del (p.Arg94fs) AND Zellweger spectrum disorders	ClinVar	Detail
NA	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs61752122 dbSNP
Genome: hg19
Position: chr8:77,896,133-77,896,137
Variant Type: snv
Reference Allele: TCTCA
Alternative Allele: -
East Asian Chromosome Counts (ExAC): 8654
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): 121264
Allele Counts in All Race (ExAC): 2
Heterozygous Counts in All Race (ExAC): 2
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.6492941021242907E-5

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