chr1:161169070:G>C Detail (hg38) (PPOX)

Information

Genome

Assembly Position
hg19 chr1:161,138,860-161,138,860 View the variant detail on this assembly version.
hg38 chr1:161,169,070-161,169,070

HGVS

Type Transcript Protein
RefSeq NM_000309.3:c.694G>C NP_000300.1:p.Gly232Arg
NM_001122764.1:c.694G>C NP_001116236.1:p.Gly232Arg
Ensemble ENST00000352210.9:c.694G>C ENST00000352210.9:p.Gly232Arg
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 1996-03-01 no assertion criteria provided variegate porphyria germline Detail
Pathogenic 2023-11-03 criteria provided, single submitter not provided 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.694G>C (p.Gly232Arg) AND Variegate porphyria ClinVar Detail
NM_001122764.3(PPOX):c.694G>C (p.Gly232Arg) AND not provided 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
rs121918323 dbSNP
Genome
hg38
Position
chr1:161,169,070-161,169,070
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Genome browser