ClinVar

NM_000162.5(GCK):c.630G>T (p.Met210Ile)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

• Chr7: 44149809 (on Assembly GRCh38)
• Chr7: 44189408 (on Assembly GRCh37)

Preferred name:

NM_000162.5(GCK):c.630G>T (p.Met210Ile)

Other names:

NM_000162.5(GCK):c.630G>T

HGVS:

• NC_000007.14:g.44149809C>A
• NG_008847.2:g.53362G>T
• NM_000162.5:c.630G>TMANE SELECT
• NM_001354800.1:c.630G>T
• NM_033507.3:c.633G>T
• NM_033508.3:c.627G>T
• NP_000153.1:p.Met210Ile
• NP_001341729.1:p.Met210Ile
• NP_277042.1:p.Met211Ile
• NP_277043.1:p.Met209Ile
• LRG_1074t1:c.630G>T
• LRG_1074t2:c.633G>T
• LRG_1074:g.53362G>T
• LRG_1074p1:p.Met210Ile
• LRG_1074p2:p.Met211Ile
• NC_000007.13:g.44189408C>A
• NM_000162.3:c.630G>T

This HGVS expression did not pass validation

Protein change:

M209I

Links:

dbSNP: rs193922313

NCBI 1000 Genomes Browser:

rs193922313

Molecular consequence:

• NM_000162.5:c.630G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354800.1:c.630G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_033507.3:c.633G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_033508.3:c.627G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2