ClinVar

NM_001122764.3(PPOX):c.399G>A (p.Glu133=)

Gene:

PPOX:protoporphyrinogen oxidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q23.3

Genomic location:

• Chr1: 161168055 (on Assembly GRCh38)
• Chr1: 161137845 (on Assembly GRCh37)

Preferred name:

NM_001122764.3(PPOX):c.399G>A (p.Glu133=)

HGVS:

• NC_000001.11:g.161168055G>A
• NG_012877.2:g.6665G>A
• NG_092498.1:g.675G>A
• NM_000309.5:c.399G>A
• NM_001122764.3:c.399G>AMANE SELECT
• NM_001350128.2:c.354-358G>A
• NM_001350129.2:c.-29G>A
• NM_001350130.2:c.-88G>A
• NM_001350131.2:c.-34-358G>A
• NM_001365398.1:c.399G>A
• NM_001365399.1:c.399G>A
• NM_001365400.1:c.-29G>A
• NM_001365401.1:c.-88G>A
• NP_000300.1:p.Glu133=
• NP_001116236.1:p.Glu133=
• NP_001352327.1:p.Glu133=
• NP_001352328.1:p.Glu133=
• LRG_1078t1:c.399G>A
• LRG_1078:g.6665G>A
• LRG_1078p1:p.Glu133=
• NC_000001.10:g.161137845G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001350129.2:c.-29G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001350130.2:c.-88G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001365400.1:c.-29G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001365401.1:c.-88G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001350128.2:c.354-358G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001350131.2:c.-34-358G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000309.5:c.399G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001122764.3:c.399G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001365398.1:c.399G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001365399.1:c.399G>A - synonymous variant - [Sequence Ontology: SO:0001819]