ClinVar

NM_000162.5(GCK):c.661G>A (p.Glu221Lys)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

• Chr7: 44149778 (on Assembly GRCh38)
• Chr7: 44189377 (on Assembly GRCh37)

Preferred name:

NM_000162.5(GCK):c.661G>A (p.Glu221Lys)

Other names:

NM_000162.5(GCK):c.661G>A

HGVS:

• NC_000007.14:g.44149778C>T
• NG_008847.2:g.53393G>A
• NM_000162.5:c.661G>AMANE SELECT
• NM_001354800.1:c.661G>A
• NM_033507.3:c.664G>A
• NM_033508.3:c.658G>A
• NP_000153.1:p.Glu221Lys
• NP_001341729.1:p.Glu221Lys
• NP_277042.1:p.Glu222Lys
• NP_277043.1:p.Glu220Lys
• LRG_1074t1:c.661G>A
• LRG_1074t2:c.664G>A
• LRG_1074:g.53393G>A
• LRG_1074p1:p.Glu221Lys
• LRG_1074p2:p.Glu222Lys
• NC_000007.13:g.44189377C>T
• NM_000162.3:c.661G>A
• P35557:p.Glu221Lys

This HGVS expression did not pass validation

Protein change:

E220K

Links:

UniProtKB: P35557#VAR_003702; dbSNP: rs193922317

NCBI 1000 Genomes Browser:

rs193922317

Molecular consequence:

• NM_000162.5:c.661G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354800.1:c.661G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_033507.3:c.664G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_033508.3:c.658G>A - missense variant - [Sequence Ontology: SO:0001583]