ClinVar

NM_000162.5(GCK):c.579+29G>T

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

• Chr7: 44149940 (on Assembly GRCh38)
• Chr7: 44189539 (on Assembly GRCh37)

Preferred name:

NM_000162.5(GCK):c.579+29G>T

HGVS:

• NC_000007.14:g.44149940C>A
• NG_008847.2:g.53231G>T
• NM_000162.5:c.579+29G>TMANE SELECT
• NM_001354800.1:c.579+29G>T
• NM_033507.3:c.582+29G>T
• NM_033508.3:c.576+29G>T
• LRG_1074t1:c.579+29G>T
• LRG_1074t2:c.582+29G>T
• LRG_1074:g.53231G>T
• NC_000007.13:g.44189539C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs35786405

NCBI 1000 Genomes Browser:

rs35786405

Molecular consequence:

• NM_000162.5:c.579+29G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354800.1:c.579+29G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_033507.3:c.582+29G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_033508.3:c.576+29G>T - intron variant - [Sequence Ontology: SO:0001627]