ClinVar

NM_000162.5(GCK):c.790G>A (p.Gly264Ser)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

• Chr7: 44147723 (on Assembly GRCh38)
• Chr7: 44187322 (on Assembly GRCh37)

Preferred name:

NM_000162.5(GCK):c.790G>A (p.Gly264Ser)

Other names:

NM_000162.5(GCK):c.790G>A; p.Gly264Ser

HGVS:

• NC_000007.14:g.44147723C>T
• NG_008847.2:g.55448G>A
• NM_000162.5:c.790G>AMANE SELECT
• NM_001354800.1:c.790G>A
• NM_033507.3:c.793G>A
• NM_033508.3:c.787G>A
• NP_000153.1:p.Gly264Ser
• NP_001341729.1:p.Gly264Ser
• NP_277042.1:p.Gly265Ser
• NP_277043.1:p.Gly263Ser
• LRG_1074t1:c.790G>A
• LRG_1074t2:c.793G>A
• LRG_1074:g.55448G>A
• LRG_1074p1:p.Gly264Ser
• LRG_1074p2:p.Gly265Ser
• NC_000007.13:g.44187322C>T
• NM_000162.3:c.790G>A

This HGVS expression did not pass validation

Protein change:

G263S

Links:

dbSNP: rs193929373

NCBI 1000 Genomes Browser:

rs193929373

Molecular consequence:

• NM_000162.5:c.790G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354800.1:c.790G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_033507.3:c.793G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_033508.3:c.787G>A - missense variant - [Sequence Ontology: SO:0001583]