ClinVar

NM_004213.5(SLC28A1):c.1489G>A (p.Glu497Lys)

Gene:

SLC28A1:solute carrier family 28 member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q25.3

Genomic location:

• Chr15: 84935426 (on Assembly GRCh38)
• Chr15: 85478657 (on Assembly GRCh37)

Preferred name:

NM_004213.5(SLC28A1):c.1489G>A (p.Glu497Lys)

HGVS:

• NC_000015.10:g.84935426G>A
• NM_001287761.2:c.1084-8019G>A
• NM_001287762.2:c.1489G>A
• NM_001321721.2:c.1489G>A
• NM_001321722.2:c.1489G>A
• NM_004213.5:c.1489G>AMANE SELECT
• NP_001274691.1:p.Glu497Lys
• NP_001308650.1:p.Glu497Lys
• NP_001308651.1:p.Glu497Lys
• NP_004204.3:p.Glu497Lys
• NC_000015.9:g.85478657G>A
• NM_004213.3:c.1489G>A

This HGVS expression did not pass validation

Protein change:

E497K

Molecular consequence:

• NM_001287761.2:c.1084-8019G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001287762.2:c.1489G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321721.2:c.1489G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321722.2:c.1489G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004213.5:c.1489G>A - missense variant - [Sequence Ontology: SO:0001583]