ClinVar

NM_014585.6(SLC40A1):c.262A>G (p.Arg88Gly)

Gene:

SLC40A1:solute carrier family 40 member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q32.2

Genomic location:

• Chr2: 189575170 (on Assembly GRCh38)
• Chr2: 190439896 (on Assembly GRCh37)

Preferred name:

NM_014585.6(SLC40A1):c.262A>G (p.Arg88Gly)

HGVS:

• NC_000002.12:g.189575170T>C
• NG_009027.1:g.10642A>G
• NM_014585.6:c.262A>GMANE SELECT
• NP_055400.1:p.Arg88Gly
• NP_055400.1:p.Arg88Gly
• LRG_837t1:c.262A>G
• LRG_837:g.10642A>G
• LRG_837p1:p.Arg88Gly
• NC_000002.11:g.190439896T>C
• NM_014585.5:c.262A>G

This HGVS expression did not pass validation

Protein change:

R88G

Links:

dbSNP: rs387907374

NCBI 1000 Genomes Browser:

rs387907374

Molecular consequence:

• NM_014585.6:c.262A>G - missense variant - [Sequence Ontology: SO:0001583]