ClinVar

NM_000162.5(GCK):c.1190G>T (p.Arg397Leu)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

• Chr7: 44145560 (on Assembly GRCh38)
• Chr7: 44185159 (on Assembly GRCh37)

Preferred name:

NM_000162.5(GCK):c.1190G>T (p.Arg397Leu)

Other names:

NM_000162.5(GCK):c.1190G>T; p.Arg397Leu

HGVS:

• NC_000007.14:g.44145560C>A
• NG_008847.2:g.57611G>T
• NM_000162.5:c.1190G>TMANE SELECT
• NM_001354800.1:c.1190G>T
• NM_001354801.1:c.179G>T
• NM_001354802.1:c.50G>T
• NM_001354803.2:c.224G>T
• NM_033507.3:c.1193G>T
• NM_033508.3:c.1187G>T
• NP_000153.1:p.Arg397Leu
• NP_001341729.1:p.Arg397Leu
• NP_001341730.1:p.Arg60Leu
• NP_001341731.1:p.Arg17Leu
• NP_001341732.1:p.Arg75Leu
• NP_277042.1:p.Arg398Leu
• NP_277043.1:p.Arg396Leu
• LRG_1074t1:c.1190G>T
• LRG_1074t2:c.1193G>T
• LRG_1074:g.57611G>T
• LRG_1074p1:p.Arg397Leu
• LRG_1074p2:p.Arg398Leu
• NC_000007.13:g.44185159C>A
• NM_000162.3:c.1190G>T
• p.ARG397LEU

This HGVS expression did not pass validation

Protein change:

R17L

Links:

dbSNP: rs193929375

NCBI 1000 Genomes Browser:

rs193929375

Molecular consequence:

• NM_000162.5:c.1190G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354800.1:c.1190G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354801.1:c.179G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354802.1:c.50G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354803.2:c.224G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_033507.3:c.1193G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_033508.3:c.1187G>T - missense variant - [Sequence Ontology: SO:0001583]