ClinVar

NM_000162.5(GCK):c.666C>T (p.Val222=)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

• Chr7: 44149773 (on Assembly GRCh38)
• Chr7: 44189372 (on Assembly GRCh37)

Preferred name:

NM_000162.5(GCK):c.666C>T (p.Val222=)

HGVS:

• NC_000007.14:g.44149773G>A
• NG_008847.2:g.53398C>T
• NM_000162.5:c.666C>TMANE SELECT
• NM_001354800.1:c.666C>T
• NM_033507.3:c.669C>T
• NM_033508.3:c.663C>T
• NP_000153.1:p.Val222=
• NP_001341729.1:p.Val222=
• NP_277042.1:p.Val223=
• NP_277043.1:p.Val221=
• LRG_1074t1:c.666C>T
• LRG_1074t2:c.669C>T
• LRG_1074:g.53398C>T
• LRG_1074p1:p.Val222=
• LRG_1074p2:p.Val223=
• NC_000007.13:g.44189372G>A
• NM_000162.3:c.666C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs193922318

NCBI 1000 Genomes Browser:

rs193922318

Molecular consequence:

• NM_000162.5:c.666C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354800.1:c.666C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_033507.3:c.669C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_033508.3:c.663C>T - synonymous variant - [Sequence Ontology: SO:0001819]