ClinVar

NM_021628.3(ALOXE3):c.1812T>A (p.Asn604Lys)

Gene:

ALOXE3:arachidonate lipoxygenase 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 8103467 (on Assembly GRCh38)
• Chr17: 8006785 (on Assembly GRCh37)

Preferred name:

NM_021628.3(ALOXE3):c.1812T>A (p.Asn604Lys)

HGVS:

• NC_000017.11:g.8103467A>T
• NG_015807.1:g.20450T>A
• NM_001165960.1:c.2208T>A
• NM_001369446.1:c.1809T>A
• NM_021628.3:c.1812T>AMANE SELECT
• NP_001159432.1:p.Asn736Lys
• NP_001356375.1:p.Asn603Lys
• NP_067641.2:p.Asn604Lys
• NC_000017.10:g.8006785A>T
• NM_021628.2:c.1812T>A

This HGVS expression did not pass validation

Protein change:

N603K

Links:

dbSNP: rs568695601

NCBI 1000 Genomes Browser:

rs568695601

Molecular consequence:

• NM_001165960.1:c.2208T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369446.1:c.1809T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_021628.3:c.1812T>A - missense variant - [Sequence Ontology: SO:0001583]