ClinVar

NM_006516.4(SLC2A1):c.938C>A (p.Ser313Tyr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.2

Genomic location:

• Chr1: 42929244 (on Assembly GRCh38)
• Chr1: 43394915 (on Assembly GRCh37)

Preferred name:

NM_006516.4(SLC2A1):c.938C>A (p.Ser313Tyr)

HGVS:

• NC_000001.11:g.42929244G>T
• NG_008232.1:g.34933C>A
• NM_006516.4:c.938C>AMANE SELECT
• NP_006507.2:p.Ser313Tyr
• LRG_1132:g.34933C>A
• NC_000001.10:g.43394915G>T

This HGVS expression did not pass validation

Protein change:

S313Y

Links:

dbSNP: rs794727870

NCBI 1000 Genomes Browser:

rs794727870

Molecular consequence:

• NM_006516.4:c.938C>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1