ClinVar

NM_000162.5(GCK):c.694G>A (p.Ala232Thr)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

• Chr7: 44147819 (on Assembly GRCh38)
• Chr7: 44187418 (on Assembly GRCh37)

Preferred name:

NM_000162.5(GCK):c.694G>A (p.Ala232Thr)

HGVS:

• NC_000007.14:g.44147819C>T
• NG_008847.2:g.55352G>A
• NM_000162.5:c.694G>AMANE SELECT
• NM_001354800.1:c.694G>A
• NM_033507.3:c.697G>A
• NM_033508.3:c.691G>A
• NP_000153.1:p.Ala232Thr
• NP_001341729.1:p.Ala232Thr
• NP_277042.1:p.Ala233Thr
• NP_277043.1:p.Ala231Thr
• LRG_1074t1:c.694G>A
• LRG_1074t2:c.697G>A
• LRG_1074:g.55352G>A
• LRG_1074p1:p.Ala232Thr
• LRG_1074p2:p.Ala233Thr
• NC_000007.13:g.44187418C>T
• NM_000162.3:c.694G>A

This HGVS expression did not pass validation

Protein change:

A231T

Links:

dbSNP: rs193922322

NCBI 1000 Genomes Browser:

rs193922322

Molecular consequence:

• NM_000162.5:c.694G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354800.1:c.694G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_033507.3:c.697G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_033508.3:c.691G>A - missense variant - [Sequence Ontology: SO:0001583]