chr1:161138252:C>T Detail (hg19) (PPOX)

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

Genome

Assembly	Position
hg19	chr1:161,138,252-161,138,252
hg38	chr1:161,168,462-161,168,462 View the variant detail on this assembly version.

HGVS

PPOX

Type	Transcript	Protein
RefSeq	NM_000309.3:c.502C>T	NP_000300.1:p.Arg168Cys
	NM_001122764.1:c.502C>T	NP_001116236.1:p.Arg168Cys
Ensemble	ENST00000352210.9:c.502C>T	ENST00000352210.9:p.Arg168Cys
	ENST00000462866.5:c.87+1528C>T
	ENST00000544598.5:c.222+1228C>T
	ENST00000367999.9:c.502C>T	ENST00000367999.9:p.Arg168Cys
	ENST00000535223.5:c.87+1528C>T

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 Likely pathogenic
Review star
Show details

Links

PPOX

Type	Database	ID	Link
Gene	MIM	600923	OMIM
	HGNC	9280	HGNC
	Ensembl	ENSG00000143224	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 Likely pathogenic	1996-07-01	no assertion criteria provided	variegate porphyria	germline inherited	Detail
Pathogenic	1996-07-01	no assertion criteria provided	Variegate porphyria, childhood-onset	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.458	variegate porphyria	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_001122764.3(PPOX):c.502C>T (p.Arg168Cys) AND Variegate porphyria	ClinVar	Detail
NM_001122764.3(PPOX):c.502C>T (p.Arg168Cys) AND Variegate porphyria, childhood-onset	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: rs121918325 dbSNP
Genome: hg19
Position: chr1:161,138,252-161,138,252
Variant Type: snv
Reference Allele: C
Alternative Allele: T
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): 121362
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.239811473113496E-6

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