ClinVar

NM_000162.5(GCK):c.1364T>A (p.Val455Glu)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

• Chr7: 44145170 (on Assembly GRCh38)
• Chr7: 44184769 (on Assembly GRCh37)

Preferred name:

NM_000162.5(GCK):c.1364T>A (p.Val455Glu)

HGVS:

• NC_000007.14:g.44145170A>T
• NG_008847.2:g.58001T>A
• NM_000162.5:c.1364T>AMANE SELECT
• NM_001354800.1:c.1364T>A
• NM_001354801.1:c.353T>A
• NM_001354802.1:c.224T>A
• NM_001354803.2:c.398T>A
• NM_033507.3:c.1367T>A
• NM_033508.3:c.1361T>A
• NP_000153.1:p.Val455Glu
• NP_001341729.1:p.Val455Glu
• NP_001341730.1:p.Val118Glu
• NP_001341731.1:p.Val75Glu
• NP_001341732.1:p.Val133Glu
• NP_277042.1:p.Val456Glu
• NP_277043.1:p.Val454Glu
• LRG_1074t1:c.1364T>A
• LRG_1074t2:c.1367T>A
• LRG_1074:g.58001T>A
• LRG_1074p1:p.Val455Glu
• LRG_1074p2:p.Val456Glu
• NC_000007.13:g.44184769A>T
• NM_000162.3:c.1364T>A

This HGVS expression did not pass validation

Protein change:

V118E

Links:

dbSNP: rs753795627

NCBI 1000 Genomes Browser:

rs753795627

Molecular consequence:

• NM_000162.5:c.1364T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354800.1:c.1364T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354801.1:c.353T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354802.1:c.224T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354803.2:c.398T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_033507.3:c.1367T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_033508.3:c.1361T>A - missense variant - [Sequence Ontology: SO:0001583]