chr1:161138253:G>A Detail (hg19) (PPOX)

Information

Genome

Assembly Position
hg19 chr1:161,138,253-161,138,253
hg38 chr1:161,168,463-161,168,463 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001122764.1:c.503G>A NP_001116236.1:p.Arg168His
NM_000309.3:c.503G>A NP_000300.1:p.Arg168His
Ensemble ENST00000367999.9:c.503G>A ENST00000367999.9:p.Arg168His
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely 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
Likely pathogenic 2019-02-28 criteria provided, single submitter variegate porphyria germline Detail
Pathogenic 2022-11-03 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2020-07-02 criteria provided, single submitter germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.458 variegate porphyria NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001122764.3(PPOX):c.503G>A (p.Arg168His) AND Variegate porphyria ClinVar Detail
NM_001122764.3(PPOX):c.503G>A (p.Arg168His) AND not provided ClinVar Detail
NM_001122764.3(PPOX):c.503G>A (p.Arg168His) AND See cases 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
rs41270025 dbSNP
Genome
hg19
Position
chr1:161,138,253-161,138,253
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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