ClinVar

NM_000162.5(GCK):c.1358C>T (p.Ser453Leu)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

• Chr7: 44145176 (on Assembly GRCh38)
• Chr7: 44184775 (on Assembly GRCh37)

Preferred name:

NM_000162.5(GCK):c.1358C>T (p.Ser453Leu)

HGVS:

• NC_000007.14:g.44145176G>A
• NG_008847.2:g.57995C>T
• NM_000162.5:c.1358C>TMANE SELECT
• NM_001354800.1:c.1358C>T
• NM_001354801.1:c.347C>T
• NM_001354802.1:c.218C>T
• NM_001354803.2:c.392C>T
• NM_033507.3:c.1361C>T
• NM_033508.3:c.1355C>T
• NP_000153.1:p.Ser453Leu
• NP_001341729.1:p.Ser453Leu
• NP_001341730.1:p.Ser116Leu
• NP_001341731.1:p.Ser73Leu
• NP_001341732.1:p.Ser131Leu
• NP_277042.1:p.Ser454Leu
• NP_277043.1:p.Ser452Leu
• LRG_1074t1:c.1358C>T
• LRG_1074t2:c.1361C>T
• LRG_1074:g.57995C>T
• LRG_1074p1:p.Ser453Leu
• LRG_1074p2:p.Ser454Leu
• NC_000007.13:g.44184775G>A
• NM_000162.3:c.1358C>T
• p.SER453LEU

This HGVS expression did not pass validation

Protein change:

S116L

Links:

dbSNP: rs193922283

NCBI 1000 Genomes Browser:

rs193922283

Molecular consequence:

• NM_000162.5:c.1358C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354800.1:c.1358C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354801.1:c.347C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354802.1:c.218C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354803.2:c.392C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_033507.3:c.1361C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_033508.3:c.1355C>T - missense variant - [Sequence Ontology: SO:0001583]