chr1:161167187:C>T 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	chr1:161,136,977-161,136,977 View the variant detail on this assembly version.
hg38	chr1:161,167,187-161,167,187

HGVS

PPOX

Type	Transcript	Protein
RefSeq	NM_000309.3:c.175C>T	NP_000300.1:p.Arg59Trp
	NM_001122764.1:c.175C>T	NP_001116236.1:p.Arg59Trp
Ensemble	ENST00000352210.9:c.175C>T	ENST00000352210.9:p.Arg59Trp
	ENST00000367999.9:c.175C>T	ENST00000367999.9:p.Arg59Trp
	ENST00000462866.5:c.87+253C>T
	ENST00000535223.5:c.87+253C>T
	ENST00000544598.5:c.175C>T	ENST00000544598.5:p.Arg59Trp

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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	2022-03-31	criteria provided, single submitter	variegate porphyria	germline	Detail
Pathogenic	2023-10-14	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	1999-08-01	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
0.458	variegate porphyria	A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme ...	BeFree	8673113	Detail
0.001	Disorders of Porphyrin Metabolism	Overrepresentation of the founder PPOX gene mutation R59W in a South African pat...	BeFree	15660919	Detail
0.458	variegate porphyria	Mutation Q127H was detected in exon 3 of the HFE gene together with mutation H63...	BeFree	10401000	Detail
<0.001	variegate porphyria	Mutation Q127H was detected in exon 3 of the HFE gene together with mutation H63...	BeFree	10401000	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001122764.3(PPOX):c.175C>T (p.Arg59Trp) AND Variegate porphyria	ClinVar	Detail
NM_001122764.3(PPOX):c.175C>T (p.Arg59Trp) AND not provided	ClinVar	Detail
NM_001122764.3(PPOX):c.175C>T (p.Arg59Trp) AND Variegate porphyria, childhood-onset	ClinVar	Detail
NA	DisGeNET	Detail
A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prev...	DisGeNET	Detail
Overrepresentation of the founder PPOX gene mutation R59W in a South African patient with severe cli...	DisGeNET	Detail
Mutation Q127H was detected in exon 3 of the HFE gene together with mutation H63D in an apparently s...	DisGeNET	Detail
Mutation Q127H was detected in exon 3 of the HFE gene together with mutation H63D in an apparently s...	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: rs121918324 dbSNP
Genome: hg38
Position: chr1:161,167,187-161,167,187
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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