ClinVar

NM_014585.6(SLC40A1):c.610G>A (p.Gly204Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q32.2

Genomic location:

• Chr2: 189565504 (on Assembly GRCh38)
• Chr2: 190430230 (on Assembly GRCh37)

Preferred name:

NM_014585.6(SLC40A1):c.610G>A (p.Gly204Ser)

HGVS:

• NC_000002.12:g.189565504C>T
• NG_009027.1:g.20308G>A
• NM_014585.6:c.610G>AMANE SELECT
• NP_055400.1:p.Gly204Ser
• NP_055400.1:p.Gly204Ser
• LRG_837t1:c.610G>A
• LRG_837:g.20308G>A
• LRG_837p1:p.Gly204Ser
• NC_000002.11:g.190430230C>T
• NM_014585.5:c.610G>A

This HGVS expression did not pass validation

Protein change:

G204S

Links:

dbSNP: rs387907377

NCBI 1000 Genomes Browser:

rs387907377

Molecular consequence:

• NM_014585.6:c.610G>A - missense variant - [Sequence Ontology: SO:0001583]