ClinVar

NM_000162.5(GCK):c.118G>A (p.Glu40Lys)

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>A (p.Glu40Lys)

HGVS:

• NC_000007.14:g.44153391C>T
• NG_008847.2:g.49780G>A
• NM_000162.5:c.118G>AMANE SELECT
• NM_001354800.1:c.118G>A
• NM_033507.3:c.121G>A
• NM_033508.3:c.115G>A
• NP_000153.1:p.Glu40Lys
• NP_001341729.1:p.Glu40Lys
• NP_277042.1:p.Glu41Lys
• NP_277043.1:p.Glu39Lys
• LRG_1074t1:c.118G>A
• LRG_1074t2:c.121G>A
• LRG_1074:g.49780G>A
• LRG_1074p1:p.Glu40Lys
• LRG_1074p2:p.Glu41Lys
• NC_000007.13:g.44192990C>T

This HGVS expression did not pass validation

Protein change:

E39K

Links:

dbSNP: rs794727236

NCBI 1000 Genomes Browser:

rs794727236

Molecular consequence:

• NM_000162.5:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354800.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_033507.3:c.121G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_033508.3:c.115G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2