ClinVar

NM_000162.5(GCK):c.1146C>A (p.Cys382Ter)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

• Chr7: 44145604 (on Assembly GRCh38)
• Chr7: 44185203 (on Assembly GRCh37)

Preferred name:

NM_000162.5(GCK):c.1146C>A (p.Cys382Ter)

Other names:

NM_000162.5(GCK):c.1146C>A; p.Cys382Ter

HGVS:

• NC_000007.14:g.44145604G>T
• NG_008847.2:g.57567C>A
• NM_000162.5:c.1146C>AMANE SELECT
• NM_001354800.1:c.1146C>A
• NM_001354801.1:c.135C>A
• NM_001354802.1:c.6C>A
• NM_001354803.2:c.180C>A
• NM_033507.3:c.1149C>A
• NM_033508.3:c.1143C>A
• NP_000153.1:p.Cys382Ter
• NP_001341729.1:p.Cys382Ter
• NP_001341730.1:p.Cys45Ter
• NP_001341731.1:p.Cys2Ter
• NP_001341732.1:p.Cys60Ter
• NP_277042.1:p.Cys383Ter
• NP_277043.1:p.Cys381Ter
• LRG_1074t1:c.1146C>A
• LRG_1074t2:c.1149C>A
• LRG_1074:g.57567C>A
• LRG_1074p1:p.Cys382Ter
• LRG_1074p2:p.Cys383Ter
• NC_000007.13:g.44185203G>T
• NM_000162.3:c.1146C>A

This HGVS expression did not pass validation

Protein change:

C2*

Links:

dbSNP: rs1583591809

NCBI 1000 Genomes Browser:

rs1583591809

Molecular consequence:

• NM_000162.5:c.1146C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354800.1:c.1146C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354801.1:c.135C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354802.1:c.6C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354803.2:c.180C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_033507.3:c.1149C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_033508.3:c.1143C>A - nonsense - [Sequence Ontology: SO:0001587]