chr1:161167211:C> Detail (hg38) (PPOX)

Information

Genome

Assembly Position
hg19 chr1:161,137,001-161,137,001 
hg38 chr1:161,167,211-161,167,211

HGVS

Type Transcript Protein
RefSeq NM_000309.3:c.199delC NP_000300.1:p.Leu67Ter
NM_001122764.1:c.199delC NP_001116236.1:p.Leu67Ter
Ensemble ENST00000352210.9:c.199delC ENST00000352210.9:p.Leu67Ter
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
Pathogenic 2014-03-24 criteria provided, single submitter variegate porphyria germline Detail
Pathogenic Likely pathogenic 2022-07-16 criteria provided, multiple submitters, no conflicts 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.199del (p.Ala66_Leu67insTer) AND Variegate porphyria ClinVar Detail
NM_001122764.3(PPOX):c.199del (p.Ala66_Leu67insTer) 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
rs786204784 dbSNP
Genome
hg38
Position
chr1:161,167,211-161,167,211
Variant Type
snv
Reference Allele
C
Alternative Allele
-
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