ClinVar

NM_000162.5(GCK):c.483G>A (p.Lys161=)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

• Chr7: 44150956 (on Assembly GRCh38)
• Chr7: 44190555 (on Assembly GRCh37)

Preferred name:

NM_000162.5(GCK):c.483G>A (p.Lys161=)

Other names:

NM_000162.5(GCK):c.483G>A; p.Lys161=

HGVS:

• NC_000007.14:g.44150956C>T
• NG_008847.2:g.52215G>A
• NM_000162.5:c.483G>AMANE SELECT
• NM_001354800.1:c.483G>A
• NM_033507.3:c.486G>A
• NM_033508.3:c.480G>A
• NP_000153.1:p.Lys161=
• NP_001341729.1:p.Lys161=
• NP_277042.1:p.Lys162=
• NP_277043.1:p.Lys160=
• LRG_1074t1:c.483G>A
• LRG_1074t2:c.486G>A
• LRG_1074:g.52215G>A
• LRG_1074p1:p.Lys161=
• LRG_1074p2:p.Lys162=
• NC_000007.13:g.44190555C>T
• NM_000162.3:c.483G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs193922302

NCBI 1000 Genomes Browser:

rs193922302

Molecular consequence:

• NM_000162.5:c.483G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354800.1:c.483G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_033507.3:c.486G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_033508.3:c.480G>A - synonymous variant - [Sequence Ontology: SO:0001819]