ClinVar

NM_000162.5(GCK):c.1255T>C (p.Phe419Leu)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

• Chr7: 44145279 (on Assembly GRCh38)
• Chr7: 44184878 (on Assembly GRCh37)

Preferred name:

NM_000162.5(GCK):c.1255T>C (p.Phe419Leu)

Other names:

NM_000162.5(GCK):c.1255T>C; p.Phe419Leu

HGVS:

• NC_000007.14:g.44145279A>G
• NG_008847.2:g.57892T>C
• NM_000162.5:c.1255T>CMANE SELECT
• NM_001354800.1:c.1255T>C
• NM_001354801.1:c.244T>C
• NM_001354802.1:c.115T>C
• NM_001354803.2:c.289T>C
• NM_033507.3:c.1258T>C
• NM_033508.3:c.1252T>C
• NP_000153.1:p.Phe419Leu
• NP_001341729.1:p.Phe419Leu
• NP_001341730.1:p.Phe82Leu
• NP_001341731.1:p.Phe39Leu
• NP_001341732.1:p.Phe97Leu
• NP_277042.1:p.Phe420Leu
• NP_277043.1:p.Phe418Leu
• LRG_1074t1:c.1255T>C
• LRG_1074t2:c.1258T>C
• LRG_1074:g.57892T>C
• LRG_1074p1:p.Phe419Leu
• LRG_1074p2:p.Phe420Leu
• NC_000007.13:g.44184878A>G
• NM_000162.3:c.1255T>C
• p.PHE419LEU

This HGVS expression did not pass validation

Protein change:

F39L

Links:

dbSNP: rs1554334478

NCBI 1000 Genomes Browser:

rs1554334478

Molecular consequence:

• NM_000162.5:c.1255T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354800.1:c.1255T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354801.1:c.244T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354802.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354803.2:c.289T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_033507.3:c.1258T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_033508.3:c.1252T>C - missense variant - [Sequence Ontology: SO:0001583]