ClinVar

NM_001384474.1(LOXHD1):c.2317C>T (p.Arg773Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

18q21.1

Genomic location:

• Chr18: 46566377 (on Assembly GRCh38)
• Chr18: 44146340 (on Assembly GRCh37)

Preferred name:

NM_001384474.1(LOXHD1):c.2317C>T (p.Arg773Cys)

HGVS:

• NC_000018.10:g.46566377G>A
• NG_016646.2:g.95657C>T
• NM_001384474.1:c.2317C>TMANE SELECT
• NM_144612.7:c.2317C>T
• NP_001371403.1:p.Arg773Cys
• NP_653213.6:p.Arg773Cys
• NC_000018.9:g.44146340G>A
• NM_144612.6:c.2317C>T

This HGVS expression did not pass validation

Protein change:

R773C

Links:

dbSNP: rs376186520

NCBI 1000 Genomes Browser:

rs376186520

Molecular consequence:

• NM_001384474.1:c.2317C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_144612.7:c.2317C>T - missense variant - [Sequence Ontology: SO:0001583]