ClinVar

NM_000162.5(GCK):c.387C>A (p.Cys129Ter)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

• Chr7: 44151052 (on Assembly GRCh38)
• Chr7: 44190651 (on Assembly GRCh37)

Preferred name:

NM_000162.5(GCK):c.387C>A (p.Cys129Ter)

HGVS:

• NC_000007.14:g.44151052G>T
• NG_008847.2:g.52119C>A
• NM_000162.5:c.387C>AMANE SELECT
• NM_001354800.1:c.387C>A
• NM_033507.3:c.390C>A
• NM_033508.3:c.384C>A
• NP_000153.1:p.Cys129Ter
• NP_001341729.1:p.Cys129Ter
• NP_277042.1:p.Cys130Ter
• NP_277043.1:p.Cys128Ter
• LRG_1074t1:c.387C>A
• LRG_1074t2:c.390C>A
• LRG_1074:g.52119C>A
• LRG_1074p1:p.Cys129Ter
• LRG_1074p2:p.Cys130Ter
• NC_000007.13:g.44190651G>T
• NM_000162.3:c.387C>A

This HGVS expression did not pass validation

Protein change:

C128*

Links:

dbSNP: rs1583601365

NCBI 1000 Genomes Browser:

rs1583601365

Molecular consequence:

• NM_000162.5:c.387C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354800.1:c.387C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_033507.3:c.390C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_033508.3:c.384C>A - nonsense - [Sequence Ontology: SO:0001587]