ClinVar

NM_000162.5(GCK):c.499T>C (p.Trp167Arg)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

• Chr7: 44150049 (on Assembly GRCh38)
• Chr7: 44189648 (on Assembly GRCh37)

Preferred name:

NM_000162.5(GCK):c.499T>C (p.Trp167Arg)

HGVS:

• NC_000007.14:g.44150049A>G
• NG_008847.2:g.53122T>C
• NM_000162.5:c.499T>CMANE SELECT
• NM_001354800.1:c.499T>C
• NM_033507.3:c.502T>C
• NM_033508.3:c.496T>C
• NP_000153.1:p.Trp167Arg
• NP_001341729.1:p.Trp167Arg
• NP_277042.1:p.Trp168Arg
• NP_277043.1:p.Trp166Arg
• LRG_1074t1:c.499T>C
• LRG_1074t2:c.502T>C
• LRG_1074:g.53122T>C
• LRG_1074p1:p.Trp167Arg
• LRG_1074p2:p.Trp168Arg
• NC_000007.13:g.44189648A>G
• NM_000162.3:c.499T>C
• p.TRP167ARG

This HGVS expression did not pass validation

Protein change:

W166R

Links:

dbSNP: rs1481197092

NCBI 1000 Genomes Browser:

rs1481197092

Molecular consequence:

• NM_000162.5:c.499T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354800.1:c.499T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_033507.3:c.502T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_033508.3:c.496T>C - missense variant - [Sequence Ontology: SO:0001583]