ClinVar

NM_018375.5(SLC39A9):c.854G>T (p.Arg285Leu)

Gene:

SLC39A9:solute carrier family 39 member 9 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q24.1

Genomic location:

• Chr14: 69458523 (on Assembly GRCh38)
• Chr14: 69925240 (on Assembly GRCh37)

Preferred name:

NM_018375.5(SLC39A9):c.854G>T (p.Arg285Leu)

HGVS:

• NC_000014.9:g.69458523G>T
• NM_001252148.2:c.785G>T
• NM_001252150.2:c.693+2657G>T
• NM_001252151.2:c.500G>T
• NM_001252152.2:c.500G>T
• NM_001330185.2:c.656G>T
• NM_018375.5:c.854G>TMANE SELECT
• NP_001239077.1:p.Arg262Leu
• NP_001239080.1:p.Arg167Leu
• NP_001239081.1:p.Arg167Leu
• NP_001317114.1:p.Arg219Leu
• NP_060845.2:p.Arg285Leu
• NC_000014.8:g.69925240G>T
• NM_018375.3:c.854G>T

This HGVS expression did not pass validation

Protein change:

R167L

Molecular consequence:

• NM_001252150.2:c.693+2657G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001252148.2:c.785G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001252151.2:c.500G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001252152.2:c.500G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330185.2:c.656G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_018375.5:c.854G>T - missense variant - [Sequence Ontology: SO:0001583]