ClinVar

NM_000162.5(GCK):c.833A>T (p.Asp278Val)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

• Chr7: 44147680 (on Assembly GRCh38)
• Chr7: 44187279 (on Assembly GRCh37)

Preferred name:

NM_000162.5(GCK):c.833A>T (p.Asp278Val)

HGVS:

• NC_000007.14:g.44147680T>A
• NG_008847.2:g.55491A>T
• NM_000162.5:c.833A>TMANE SELECT
• NM_001354800.1:c.833A>T
• NM_033507.3:c.836A>T
• NM_033508.3:c.830A>T
• NP_000153.1:p.Asp278Val
• NP_001341729.1:p.Asp278Val
• NP_277042.1:p.Asp279Val
• NP_277043.1:p.Asp277Val
• LRG_1074t1:c.833A>T
• LRG_1074t2:c.836A>T
• LRG_1074:g.55491A>T
• LRG_1074p1:p.Asp278Val
• LRG_1074p2:p.Asp279Val
• NC_000007.13:g.44187279T>A
• NM_000162.3:c.833A>T

This HGVS expression did not pass validation

Protein change:

D277V

Links:

dbSNP: rs193922333

NCBI 1000 Genomes Browser:

rs193922333

Molecular consequence:

• NM_000162.5:c.833A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354800.1:c.833A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_033507.3:c.836A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_033508.3:c.830A>T - missense variant - [Sequence Ontology: SO:0001583]