ClinVar

NM_000162.5(GCK):c.1079C>T (p.Ser360Leu)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

• Chr7: 44145671 (on Assembly GRCh38)
• Chr7: 44185270 (on Assembly GRCh37)

Preferred name:

NM_000162.5(GCK):c.1079C>T (p.Ser360Leu)

HGVS:

• NC_000007.14:g.44145671G>A
• NG_008847.2:g.57500C>T
• NM_000162.5:c.1079C>TMANE SELECT
• NM_001354800.1:c.1079C>T
• NM_001354801.1:c.68C>T
• NM_001354802.1:c.-62C>T
• NM_001354803.2:c.113C>T
• NM_033507.3:c.1082C>T
• NM_033508.3:c.1076C>T
• NP_000153.1:p.Ser360Leu
• NP_001341729.1:p.Ser360Leu
• NP_001341730.1:p.Ser23Leu
• NP_001341732.1:p.Ser38Leu
• NP_277042.1:p.Ser361Leu
• NP_277043.1:p.Ser359Leu
• LRG_1074t1:c.1079C>T
• LRG_1074t2:c.1082C>T
• LRG_1074:g.57500C>T
• LRG_1074p1:p.Ser360Leu
• LRG_1074p2:p.Ser361Leu
• NC_000007.13:g.44185270G>A

This HGVS expression did not pass validation

Protein change:

S23L

Molecular consequence:

• NM_001354802.1:c.-62C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000162.5:c.1079C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354800.1:c.1079C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354801.1:c.68C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354803.2:c.113C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_033507.3:c.1082C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_033508.3:c.1076C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1