ClinVar

NM_000162.5(GCK):c.118G>T (p.Glu40Ter)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

• Chr7: 44153391 (on Assembly GRCh38)
• Chr7: 44192990 (on Assembly GRCh37)

Preferred name:

NM_000162.5(GCK):c.118G>T (p.Glu40Ter)

HGVS:

• NC_000007.14:g.44153391C>A
• NG_008847.2:g.49780G>T
• NM_000162.5:c.118G>TMANE SELECT
• NM_001354800.1:c.118G>T
• NM_033507.3:c.121G>T
• NM_033508.3:c.115G>T
• NP_000153.1:p.Glu40Ter
• NP_001341729.1:p.Glu40Ter
• NP_277042.1:p.Glu41Ter
• NP_277043.1:p.Glu39Ter
• LRG_1074t1:c.118G>T
• LRG_1074t2:c.121G>T
• LRG_1074:g.49780G>T
• LRG_1074p1:p.Glu40Ter
• LRG_1074p2:p.Glu41Ter
• NC_000007.13:g.44192990C>A

This HGVS expression did not pass validation

Protein change:

E39*

Molecular consequence:

• NM_000162.5:c.118G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354800.1:c.118G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_033507.3:c.121G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_033508.3:c.115G>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1