ClinVar

NM_000162.5(GCK):c.1349C>T (p.Ala450Val)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

• Chr7: 44145185 (on Assembly GRCh38)
• Chr7: 44184784 (on Assembly GRCh37)

Preferred name:

NM_000162.5(GCK):c.1349C>T (p.Ala450Val)

HGVS:

• NC_000007.14:g.44145185G>A
• NG_008847.2:g.57986C>T
• NM_000162.5:c.1349C>TMANE SELECT
• NM_001354800.1:c.1349C>T
• NM_001354801.1:c.338C>T
• NM_001354802.1:c.209C>T
• NM_001354803.2:c.383C>T
• NM_033507.3:c.1352C>T
• NM_033508.3:c.1346C>T
• NP_000153.1:p.Ala450Val
• NP_001341729.1:p.Ala450Val
• NP_001341730.1:p.Ala113Val
• NP_001341731.1:p.Ala70Val
• NP_001341732.1:p.Ala128Val
• NP_277042.1:p.Ala451Val
• NP_277043.1:p.Ala449Val
• LRG_1074t1:c.1349C>T
• LRG_1074t2:c.1352C>T
• LRG_1074:g.57986C>T
• LRG_1074p1:p.Ala450Val
• LRG_1074p2:p.Ala451Val
• NC_000007.13:g.44184784G>A

This HGVS expression did not pass validation

Protein change:

A113V

Molecular consequence:

• NM_000162.5:c.1349C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354800.1:c.1349C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354801.1:c.338C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354802.1:c.209C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354803.2:c.383C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_033507.3:c.1352C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_033508.3:c.1346C>T - missense variant - [Sequence Ontology: SO:0001583]