ClinVar

NM_000162.5(GCK):c.1216G>A (p.Val406Met)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

• Chr7: 44145534 (on Assembly GRCh38)
• Chr7: 44185133 (on Assembly GRCh37)

Preferred name:

NM_000162.5(GCK):c.1216G>A (p.Val406Met)

HGVS:

• NC_000007.14:g.44145534C>T
• NG_008847.2:g.57637G>A
• NM_000162.5:c.1216G>AMANE SELECT
• NM_001354800.1:c.1216G>A
• NM_001354801.1:c.205G>A
• NM_001354802.1:c.76G>A
• NM_001354803.2:c.250G>A
• NM_033507.3:c.1219G>A
• NM_033508.3:c.1213G>A
• NP_000153.1:p.Val406Met
• NP_001341729.1:p.Val406Met
• NP_001341730.1:p.Val69Met
• NP_001341731.1:p.Val26Met
• NP_001341732.1:p.Val84Met
• NP_277042.1:p.Val407Met
• NP_277043.1:p.Val405Met
• LRG_1074t1:c.1216G>A
• LRG_1074t2:c.1219G>A
• LRG_1074:g.57637G>A
• LRG_1074p1:p.Val406Met
• LRG_1074p2:p.Val407Met
• NC_000007.13:g.44185133C>T
• NM_000162.3:c.1216G>A

This HGVS expression did not pass validation

Protein change:

V26M

Links:

dbSNP: rs2128819150

NCBI 1000 Genomes Browser:

rs2128819150

Molecular consequence:

• NM_000162.5:c.1216G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354800.1:c.1216G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354801.1:c.205G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354802.1:c.76G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354803.2:c.250G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_033507.3:c.1219G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_033508.3:c.1213G>A - missense variant - [Sequence Ontology: SO:0001583]