ClinVar

NM_021628.3(ALOXE3):c.780G>T (p.Thr260=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 8112097 (on Assembly GRCh38)
• Chr17: 8015415 (on Assembly GRCh37)

Preferred name:

NM_021628.3(ALOXE3):c.780G>T (p.Thr260=)

HGVS:

• NC_000017.11:g.8112097C>A
• NG_015807.1:g.11820G>T
• NM_001165960.1:c.1176G>T
• NM_001369446.1:c.777G>T
• NM_021628.3:c.780G>TMANE SELECT
• NP_001159432.1:p.Thr392=
• NP_001356375.1:p.Thr259=
• NP_067641.2:p.Thr260=
• NP_067641.2:p.Thr260=
• NC_000017.10:g.8015415C>A
• NM_021628.2:c.780G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs148293767

NCBI 1000 Genomes Browser:

rs148293767

Molecular consequence:

• NM_001165960.1:c.1176G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001369446.1:c.777G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_021628.3:c.780G>T - synonymous variant - [Sequence Ontology: SO:0001819]