ClinVar

NM_000162.5(GCK):c.1324G>A (p.Glu442Lys)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

• Chr7: 44145210 (on Assembly GRCh38)
• Chr7: 44184809 (on Assembly GRCh37)

Preferred name:

NM_000162.5(GCK):c.1324G>A (p.Glu442Lys)

HGVS:

• NC_000007.14:g.44145210C>T
• NG_008847.2:g.57961G>A
• NM_000162.5:c.1324G>AMANE SELECT
• NM_001354800.1:c.1324G>A
• NM_001354801.1:c.313G>A
• NM_001354802.1:c.184G>A
• NM_001354803.2:c.358G>A
• NM_033507.3:c.1327G>A
• NM_033508.3:c.1321G>A
• NP_000153.1:p.Glu442Lys
• NP_001341729.1:p.Glu442Lys
• NP_001341730.1:p.Glu105Lys
• NP_001341731.1:p.Glu62Lys
• NP_001341732.1:p.Glu120Lys
• NP_277042.1:p.Glu443Lys
• NP_277043.1:p.Glu441Lys
• LRG_1074t1:c.1324G>A
• LRG_1074t2:c.1327G>A
• LRG_1074:g.57961G>A
• LRG_1074p1:p.Glu442Lys
• LRG_1074p2:p.Glu443Lys
• NC_000007.13:g.44184809C>T
• NM_000162.3:c.1324G>A

This HGVS expression did not pass validation

Protein change:

E105K

Links:

dbSNP: rs758737171

NCBI 1000 Genomes Browser:

rs758737171

Molecular consequence:

• NM_000162.5:c.1324G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354800.1:c.1324G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354801.1:c.313G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354802.1:c.184G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354803.2:c.358G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_033507.3:c.1327G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_033508.3:c.1321G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1