ClinVar

NM_000162.5(GCK):c.466C>T (p.His156Tyr)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

• Chr7: 44150973 (on Assembly GRCh38)
• Chr7: 44190572 (on Assembly GRCh37)

Preferred name:

NM_000162.5(GCK):c.466C>T (p.His156Tyr)

Other names:

NM_000162.5(GCK):c.466C>T; p.His156Tyr

HGVS:

• NC_000007.14:g.44150973G>A
• NG_008847.2:g.52198C>T
• NM_000162.5:c.466C>TMANE SELECT
• NM_001354800.1:c.466C>T
• NM_033507.3:c.469C>T
• NM_033508.3:c.463C>T
• NP_000153.1:p.His156Tyr
• NP_001341729.1:p.His156Tyr
• NP_277042.1:p.His157Tyr
• NP_277043.1:p.His155Tyr
• LRG_1074t1:c.466C>T
• LRG_1074t2:c.469C>T
• LRG_1074:g.52198C>T
• LRG_1074p1:p.His156Tyr
• LRG_1074p2:p.His157Tyr
• NC_000007.13:g.44190572G>A
• NM_000162.3:c.466C>T

This HGVS expression did not pass validation

Protein change:

H155Y

Links:

dbSNP: rs1562718043

NCBI 1000 Genomes Browser:

rs1562718043

Molecular consequence:

• NM_000162.5:c.466C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354800.1:c.466C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_033507.3:c.469C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_033508.3:c.463C>T - missense variant - [Sequence Ontology: SO:0001583]