ClinVar

NM_000162.5(GCK):c.768G>C (p.Glu256Asp)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

• Chr7: 44147745 (on Assembly GRCh38)
• Chr7: 44187344 (on Assembly GRCh37)

Preferred name:

NM_000162.5(GCK):c.768G>C (p.Glu256Asp)

HGVS:

• NC_000007.14:g.44147745C>G
• NG_008847.2:g.55426G>C
• NM_000162.5:c.768G>CMANE SELECT
• NM_001354800.1:c.768G>C
• NM_033507.3:c.771G>C
• NM_033508.3:c.765G>C
• NP_000153.1:p.Glu256Asp
• NP_001341729.1:p.Glu256Asp
• NP_277042.1:p.Glu257Asp
• NP_277043.1:p.Glu255Asp
• LRG_1074t1:c.768G>C
• LRG_1074t2:c.771G>C
• LRG_1074:g.55426G>C
• LRG_1074p1:p.Glu256Asp
• LRG_1074p2:p.Glu257Asp
• NC_000007.13:g.44187344C>G
• NM_000162.3:c.768G>C

This HGVS expression did not pass validation

Protein change:

E255D

Links:

dbSNP: rs193922328

NCBI 1000 Genomes Browser:

rs193922328

Molecular consequence:

• NM_000162.5:c.768G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354800.1:c.768G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_033507.3:c.771G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_033508.3:c.765G>C - missense variant - [Sequence Ontology: SO:0001583]