chr1:161166906:A>C Detail (hg38) (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	chr1:161,136,696-161,136,696 View the variant detail on this assembly version.
hg38	chr1:161,166,906-161,166,906

HGVS

PPOX

Type	Transcript	Protein
RefSeq	NM_000309.3:c.59A>C	NP_000300.1:p.His20Pro
	NM_001122764.1:c.59A>C	NP_001116236.1:p.His20Pro
Ensemble	ENST00000352210.9:c.59A>C	ENST00000352210.9:p.His20Pro
	ENST00000367999.9:c.59A>C	ENST00000367999.9:p.His20Pro
	ENST00000462866.5:c.59A>C	ENST00000462866.5:p.His20Pro
	ENST00000535223.5:c.59A>C	ENST00000535223.5:p.His20Pro
	ENST00000544598.5:c.59A>C	ENST00000544598.5:p.His20Pro

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

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	1996-07-01	no assertion criteria provided	variegate porphyria	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.59A>C (p.His20Pro) AND Variegate porphyria	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: rs121918326 dbSNP
Genome: hg38
Position: chr1:161,166,906-161,166,906
Variant Type: snv
Reference Allele: A
Alternative Allele: C

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