ClinVar

NM_000162.5(GCK):c.1130G>T (p.Arg377Leu)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

• Chr7: 44145620 (on Assembly GRCh38)
• Chr7: 44185219 (on Assembly GRCh37)

Preferred name:

NM_000162.5(GCK):c.1130G>T (p.Arg377Leu)

Other names:

NM_000162.5(GCK):c.1130G>T; p.Arg377Leu

HGVS:

• NC_000007.14:g.44145620C>A
• NG_008847.2:g.57551G>T
• NM_000162.3:c.1130G>T
• NM_000162.5:c.1130G>TMANE SELECT
• NM_001354800.1:c.1130G>T
• NM_001354801.1:c.119G>T
• NM_001354802.1:c.-11G>T
• NM_001354803.2:c.164G>T
• NM_033507.3:c.1133G>T
• NM_033508.3:c.1127G>T
• NP_000153.1:p.Arg377Leu
• NP_001341729.1:p.Arg377Leu
• NP_001341730.1:p.Arg40Leu
• NP_001341732.1:p.Arg55Leu
• NP_277042.1:p.Arg378Leu
• NP_277043.1:p.Arg376Leu
• LRG_1074t1:c.1130G>T
• LRG_1074t2:c.1133G>T
• LRG_1074:g.57551G>T
• LRG_1074p1:p.Arg377Leu
• LRG_1074p2:p.Arg378Leu
• NC_000007.13:g.44185219C>A

This HGVS expression did not pass validation

Protein change:

R376L

Links:

dbSNP: rs193922264

NCBI 1000 Genomes Browser:

rs193922264

Molecular consequence:

• NM_001354802.1:c.-11G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000162.5:c.1130G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354800.1:c.1130G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354801.1:c.119G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354803.2:c.164G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_033507.3:c.1133G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_033508.3:c.1127G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1