chr8:77895746:C>T 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	chr8:77,895,746-77,895,746
hg38	chr8:76,983,510-76,983,510 View the variant detail on this assembly version.

HGVS

PEX2

Type	Transcript	Protein
RefSeq	NM_000318.2:c.669G>A	NP_000309.1:p.Trp223Ter
	NM_001172087.1:c.669G>A	NP_001165558.1:p.Trp223Ter
	NM_001079867.1:c.669G>A	NP_001073336.1:p.Trp223Ter
Ensemble	ENST00000357039.9:c.669G>A	ENST00000357039.9:p.Trp223Ter
	ENST00000520103.5:c.669G>A	ENST00000520103.5:p.Trp223Ter
	ENST00000522527.5:c.669G>A	ENST00000522527.5:p.Trp223Ter

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
Show details

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	2004-03-01	no assertion criteria provided	Peroxisome biogenesis disorder 5B	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.240	Peroxisome biogenesis disorder 5B	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000318.3(PEX2):c.669G>A (p.Trp223Ter) AND Peroxisome biogenesis disorder 5B	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: rs61752127 dbSNP
Genome: hg19
Position: chr8:77,895,746-77,895,746
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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