ClinVar

NM_001395413.1(POR):c.1106C>T (p.Thr369Met)

Gene:

POR:cytochrome p450 oxidoreductase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q11.23

Genomic location:

• Chr7: 75984825 (on Assembly GRCh38)
• Chr7: 75614143 (on Assembly GRCh37)

Preferred name:

NM_001395413.1(POR):c.1106C>T (p.Thr369Met)

HGVS:

• NC_000007.14:g.75984825C>T
• NG_008930.1:g.74724C>T
• NM_000941.2:c.1115C>T
• NM_001367562.3:c.1106C>T
• NM_001382655.3:c.1160C>T
• NM_001382657.2:c.1106C>T
• NM_001382658.3:c.1106C>T
• NM_001382659.3:c.1106C>T
• NM_001382662.3:c.1106C>T
• NM_001395413.1:c.1106C>TMANE SELECT
• NP_001354491.2:p.Thr369Met
• NP_001369584.2:p.Thr387Met
• NP_001369586.2:p.Thr369Met
• NP_001369587.2:p.Thr369Met
• NP_001369588.2:p.Thr369Met
• NP_001369591.2:p.Thr369Met
• NP_001382342.1:p.Thr369Met
• NC_000007.13:g.75614143C>T

This HGVS expression did not pass validation

Protein change:

T369M

Links:

dbSNP: rs367810540

NCBI 1000 Genomes Browser:

rs367810540

Molecular consequence:

• NM_001367562.3:c.1106C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382655.3:c.1160C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382657.2:c.1106C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382658.3:c.1106C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382659.3:c.1106C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382662.3:c.1106C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001395413.1:c.1106C>T - missense variant - [Sequence Ontology: SO:0001583]