chr1:161136977:C>T Detail (hg19) (PPOX)

Information

Genome

Assembly Position
hg19 chr1:161,136,977-161,136,977
hg38 chr1:161,167,187-161,167,187 View the variant detail on this assembly version.

HGVS

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
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
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

DescrptionSourceLinks
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
hg19
Position
chr1:161,136,977-161,136,977
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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