ClinVar

NM_001384474.1(LOXHD1):c.5247C>T (p.Ala1749=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

18q21.1

Genomic location:

• Chr18: 46521121 (on Assembly GRCh38)
• Chr18: 44101084 (on Assembly GRCh37)

Preferred name:

NM_001384474.1(LOXHD1):c.5247C>T (p.Ala1749=)

HGVS:

• NC_000018.10:g.46521121G>A
• NG_016646.2:g.140913C>T
• NM_001145472.3:c.1914C>T
• NM_001308013.2:c.1626C>T
• NM_001384474.1:c.5247C>TMANE SELECT
• NM_144612.7:c.5085+980C>T
• NP_001138944.1:p.Ala638=
• NP_001294942.1:p.Ala542=
• NP_001371403.1:p.Ala1749=
• NC_000018.9:g.44101084G>A
• NM_001308013.1:c.1626C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_144612.7:c.5085+980C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001145472.3:c.1914C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001308013.2:c.1626C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001384474.1:c.5247C>T - synonymous variant - [Sequence Ontology: SO:0001819]