ClinVar

NM_000162.5(GCK):c.128G>C (p.Arg43Pro)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

• Chr7: 44153381 (on Assembly GRCh38)
• Chr7: 44192980 (on Assembly GRCh37)

Preferred name:

NM_000162.5(GCK):c.128G>C (p.Arg43Pro)

HGVS:

• NC_000007.14:g.44153381C>G
• NG_008847.2:g.49790G>C
• NM_000162.5:c.128G>CMANE SELECT
• NM_001354800.1:c.128G>C
• NM_033507.3:c.131G>C
• NM_033508.3:c.125G>C
• NP_000153.1:p.Arg43Pro
• NP_001341729.1:p.Arg43Pro
• NP_277042.1:p.Arg44Pro
• NP_277043.1:p.Arg42Pro
• LRG_1074t1:c.128G>C
• LRG_1074t2:c.131G>C
• LRG_1074:g.49790G>C
• LRG_1074p1:p.Arg43Pro
• LRG_1074p2:p.Arg44Pro
• NC_000007.13:g.44192980C>G
• NM_000162.3:c.128G>C

This HGVS expression did not pass validation

Protein change:

R42P

Links:

dbSNP: rs764232985

NCBI 1000 Genomes Browser:

rs764232985

Molecular consequence:

• NM_000162.5:c.128G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354800.1:c.128G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_033507.3:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_033508.3:c.125G>C - missense variant - [Sequence Ontology: SO:0001583]