ClinVar

NM_006516.4(SLC2A1):c.278G>A (p.Arg93Gln)

Gene:

SLC2A1:solute carrier family 2 member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.2

Genomic location:

• Chr1: 42930864 (on Assembly GRCh38)
• Chr1: 43396535 (on Assembly GRCh37)

Preferred name:

NM_006516.4(SLC2A1):c.278G>A (p.Arg93Gln)

HGVS:

• NC_000001.11:g.42930864C>T
• NG_008232.1:g.33313G>A
• NM_006516.2:c.278G>A
• NM_006516.4:c.278G>AMANE SELECT
• NP_006507.2:p.Arg93Gln
• LRG_1132:g.33313G>A
• NC_000001.10:g.43396535C>T

This HGVS expression did not pass validation

Protein change:

R93Q

Links:

dbSNP: rs80359815

NCBI 1000 Genomes Browser:

rs80359815

Molecular consequence:

• NM_006516.4:c.278G>A - missense variant - [Sequence Ontology: SO:0001583]