ClinVar

NM_000162.5(GCK):c.127C>A (p.Arg43Ser)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

• Chr7: 44153382 (on Assembly GRCh38)
• Chr7: 44192981 (on Assembly GRCh37)

Preferred name:

NM_000162.5(GCK):c.127C>A (p.Arg43Ser)

HGVS:

• NC_000007.14:g.44153382G>T
• NG_008847.2:g.49789C>A
• NM_000162.5:c.127C>AMANE SELECT
• NM_001354800.1:c.127C>A
• NM_033507.3:c.130C>A
• NM_033508.3:c.124C>A
• NP_000153.1:p.Arg43Ser
• NP_001341729.1:p.Arg43Ser
• NP_277042.1:p.Arg44Ser
• NP_277043.1:p.Arg42Ser
• LRG_1074t1:c.127C>A
• LRG_1074t2:c.130C>A
• LRG_1074:g.49789C>A
• LRG_1074p1:p.Arg43Ser
• LRG_1074p2:p.Arg44Ser
• NC_000007.13:g.44192981G>T
• NM_000162.3:c.127C>A

This HGVS expression did not pass validation

Protein change:

R42S

Links:

dbSNP: rs1486280029

NCBI 1000 Genomes Browser:

rs1486280029

Molecular consequence:

• NM_000162.5:c.127C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354800.1:c.127C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_033507.3:c.130C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_033508.3:c.124C>A - missense variant - [Sequence Ontology: SO:0001583]