ClinVar

NM_000162.5(GCK):c.557G>A (p.Arg186Gln)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

• Chr7: 44149991 (on Assembly GRCh38)
• Chr7: 44189590 (on Assembly GRCh37)

Preferred name:

NM_000162.5(GCK):c.557G>A (p.Arg186Gln)

HGVS:

• NC_000007.14:g.44149991C>T
• NG_008847.2:g.53180G>A
• NM_000162.5:c.557G>AMANE SELECT
• NM_001354800.1:c.557G>A
• NM_033507.3:c.560G>A
• NM_033508.3:c.554G>A
• NP_000153.1:p.Arg186Gln
• NP_001341729.1:p.Arg186Gln
• NP_277042.1:p.Arg187Gln
• NP_277043.1:p.Arg185Gln
• LRG_1074t1:c.557G>A
• LRG_1074t2:c.560G>A
• LRG_1074:g.53180G>A
• LRG_1074p1:p.Arg186Gln
• LRG_1074p2:p.Arg187Gln
• NC_000007.13:g.44189590C>T
• NM_000162.3:c.557G>A

This HGVS expression did not pass validation

Protein change:

R185Q

Molecular consequence:

• NM_000162.5:c.557G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354800.1:c.557G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_033507.3:c.560G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_033508.3:c.554G>A - missense variant - [Sequence Ontology: SO:0001583]