ClinVar

NM_000162.5(GCK):c.776C>T (p.Ala259Val)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

• Chr7: 44147737 (on Assembly GRCh38)
• Chr7: 44187336 (on Assembly GRCh37)

Preferred name:

NM_000162.5(GCK):c.776C>T (p.Ala259Val)

Other names:

NM_000162.5(GCK):c.776C>T; p.Ala259Val

HGVS:

• NC_000007.14:g.44147737G>A
• NG_008847.2:g.55434C>T
• NM_000162.5:c.776C>TMANE SELECT
• NM_001354800.1:c.776C>T
• NM_033507.3:c.779C>T
• NM_033508.3:c.773C>T
• NP_000153.1:p.Ala259Val
• NP_001341729.1:p.Ala259Val
• NP_277042.1:p.Ala260Val
• NP_277043.1:p.Ala258Val
• LRG_1074t1:c.776C>T
• LRG_1074t2:c.779C>T
• LRG_1074:g.55434C>T
• LRG_1074p1:p.Ala259Val
• LRG_1074p2:p.Ala260Val
• NC_000007.13:g.44187336G>A
• NM_000162.3:c.776C>T
• p.ALA259VAL

This HGVS expression did not pass validation

Protein change:

A258V

Links:

dbSNP: rs1554335132

NCBI 1000 Genomes Browser:

rs1554335132

Molecular consequence:

• NM_000162.5:c.776C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354800.1:c.776C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_033507.3:c.779C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_033508.3:c.773C>T - missense variant - [Sequence Ontology: SO:0001583]