ClinVar

NM_000162.5(GCK):c.1335T>A (p.Ser445Arg)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

• Chr7: 44145199 (on Assembly GRCh38)
• Chr7: 44184798 (on Assembly GRCh37)

Preferred name:

NM_000162.5(GCK):c.1335T>A (p.Ser445Arg)

HGVS:

• NC_000007.14:g.44145199A>T
• NG_008847.2:g.57972T>A
• NM_000162.5:c.1335T>AMANE SELECT
• NM_001354800.1:c.1335T>A
• NM_001354801.1:c.324T>A
• NM_001354802.1:c.195T>A
• NM_001354803.2:c.369T>A
• NM_033507.3:c.1338T>A
• NM_033508.3:c.1332T>A
• NP_000153.1:p.Ser445Arg
• NP_001341729.1:p.Ser445Arg
• NP_001341730.1:p.Ser108Arg
• NP_001341731.1:p.Ser65Arg
• NP_001341732.1:p.Ser123Arg
• NP_277042.1:p.Ser446Arg
• NP_277043.1:p.Ser444Arg
• LRG_1074t1:c.1335T>A
• LRG_1074t2:c.1338T>A
• LRG_1074:g.57972T>A
• LRG_1074p1:p.Ser445Arg
• LRG_1074p2:p.Ser446Arg
• NC_000007.13:g.44184798A>T

This HGVS expression did not pass validation

Protein change:

S108R

Links:

dbSNP: rs2128818794

NCBI 1000 Genomes Browser:

rs2128818794

Molecular consequence:

• NM_000162.5:c.1335T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354800.1:c.1335T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354801.1:c.324T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354802.1:c.195T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354803.2:c.369T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_033507.3:c.1338T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_033508.3:c.1332T>A - missense variant - [Sequence Ontology: SO:0001583]