ClinVar

NM_000162.5(GCK):c.943C>T (p.Leu315Phe)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

• Chr7: 44146539 (on Assembly GRCh38)
• Chr7: 44186138 (on Assembly GRCh37)

Preferred name:

NM_000162.5(GCK):c.943C>T (p.Leu315Phe)

HGVS:

• NC_000007.14:g.44146539G>A
• NG_008847.2:g.56632C>T
• NM_000162.5:c.943C>TMANE SELECT
• NM_001354800.1:c.943C>T
• NM_001354801.1:c.8+80C>T
• NM_033507.3:c.946C>T
• NM_033508.3:c.940C>T
• NP_000153.1:p.Leu315Phe
• NP_001341729.1:p.Leu315Phe
• NP_277042.1:p.Leu316Phe
• NP_277043.1:p.Leu314Phe
• LRG_1074t1:c.943C>T
• LRG_1074t2:c.946C>T
• LRG_1074:g.56632C>T
• LRG_1074p1:p.Leu315Phe
• LRG_1074p2:p.Leu316Phe
• NC_000007.13:g.44186138G>A
• NM_000162.3:c.943C>T

This HGVS expression did not pass validation

Protein change:

L314F

Links:

dbSNP: rs1583594350

NCBI 1000 Genomes Browser:

rs1583594350

Molecular consequence:

• NM_001354801.1:c.8+80C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000162.5:c.943C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354800.1:c.943C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_033507.3:c.946C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_033508.3:c.940C>T - missense variant - [Sequence Ontology: SO:0001583]