ClinVar

NM_033238.3(PML):c.1519G>A (p.Glu507Lys)

Gene:

PML:PML nuclear body scaffold [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q24.1

Genomic location:

• Chr15: 74033276 (on Assembly GRCh38)
• Chr15: 74325617 (on Assembly GRCh37)

Preferred name:

NM_033238.3(PML):c.1519G>A (p.Glu507Lys)

HGVS:

• NC_000015.10:g.74033276G>A
• NG_029036.1:g.43604G>A
• NM_002675.4:c.1519G>A
• NM_033238.3:c.1519G>AMANE SELECT
• NM_033239.3:c.1519G>A
• NM_033240.3:c.1519G>A
• NM_033242.2:c.1519G>A
• NM_033244.4:c.1519G>A
• NM_033245.2:c.1519G>A
• NM_033246.3:c.1255-1202G>A
• NM_033247.3:c.1255-2731G>A
• NM_033249.3:c.1375G>A
• NM_033250.3:c.1375G>A
• NP_002666.1:p.Glu507Lys
• NP_150241.2:p.Glu507Lys
• NP_150242.1:p.Glu507Lys
• NP_150243.2:p.Glu507Lys
• NP_150245.2:p.Glu507Lys
• NP_150247.2:p.Glu507Lys
• NP_150248.1:p.Glu507Lys
• NP_150252.1:p.Glu459Lys
• NP_150253.2:p.Glu459Lys
• LRG_1069t1:c.1519G>A
• LRG_1069:g.43604G>A
• LRG_1069p1:p.Glu507Lys
• NC_000015.9:g.74325617G>A
• NM_033238.2:c.1519G>A

This HGVS expression did not pass validation

Protein change:

E459K

Molecular consequence:

• NM_033246.3:c.1255-1202G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_033247.3:c.1255-2731G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_002675.4:c.1519G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_033238.3:c.1519G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_033239.3:c.1519G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_033240.3:c.1519G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_033242.2:c.1519G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_033244.4:c.1519G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_033245.2:c.1519G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_033249.3:c.1375G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_033250.3:c.1375G>A - missense variant - [Sequence Ontology: SO:0001583]