ClinVar

NM_001384474.1(LOXHD1):c.4526G>A (p.Gly1509Glu)

Gene:

LOXHD1:lipoxygenase homology PLAT domains 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q21.1

Genomic location:

• Chr18: 46529181 (on Assembly GRCh38)
• Chr18: 44109144 (on Assembly GRCh37)

Preferred name:

NM_001384474.1(LOXHD1):c.4526G>A (p.Gly1509Glu)

HGVS:

• NC_000018.10:g.46529181C>T
• NG_016646.2:g.132853G>A
• NM_001145472.3:c.1193G>A
• NM_001308013.2:c.905G>A
• NM_001384474.1:c.4526G>AMANE SELECT
• NM_144612.7:c.4526G>A
• NP_001138944.1:p.Gly398Glu
• NP_001294942.1:p.Gly302Glu
• NP_001371403.1:p.Gly1509Glu
• NP_653213.6:p.Gly1509Glu
• NP_653213.6:p.Gly1509Glu
• NC_000018.9:g.44109144C>T
• NM_144612.6:c.4526G>A

This HGVS expression did not pass validation

Protein change:

G1509E

Links:

dbSNP: rs187587197

NCBI 1000 Genomes Browser:

rs187587197

Molecular consequence:

• NM_001145472.3:c.1193G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001308013.2:c.905G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384474.1:c.4526G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_144612.7:c.4526G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

10