ClinVar

NM_000162.5(GCK):c.148C>T (p.His50Tyr)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

• Chr7: 44153361 (on Assembly GRCh38)
• Chr7: 44192960 (on Assembly GRCh37)

Preferred name:

NM_000162.5(GCK):c.148C>T (p.His50Tyr)

Other names:

NC_000007.13(GCK_i001):p.(His50Tyr)

HGVS:

• NC_000007.14:g.44153361G>A
• NG_008847.2:g.49810C>T
• NM_000162.5:c.148C>TMANE SELECT
• NM_001354800.1:c.148C>T
• NM_033507.3:c.151C>T
• NM_033508.3:c.145C>T
• NP_000153.1:p.His50Tyr
• NP_001341729.1:p.His50Tyr
• NP_277042.1:p.His51Tyr
• NP_277043.1:p.His49Tyr
• LRG_1074t1:c.148C>T
• LRG_1074t2:c.151C>T
• LRG_1074:g.49810C>T
• LRG_1074p1:p.His50Tyr
• LRG_1074p2:p.His51Tyr
• NC_000007.13:g.44192960G>A
• NM_000162.3:c.148C>T

This HGVS expression did not pass validation

Protein change:

H49Y

Links:

dbSNP: rs1562719705

NCBI 1000 Genomes Browser:

rs1562719705

Molecular consequence:

• NM_000162.5:c.148C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354800.1:c.148C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_033507.3:c.151C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_033508.3:c.145C>T - missense variant - [Sequence Ontology: SO:0001583]