ClinVar

NM_000162.5(GCK):c.*270C>T

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

• Chr7: 44144866 (on Assembly GRCh38)
• Chr7: 44184465 (on Assembly GRCh37)

Preferred name:

NM_000162.5(GCK):c.*270C>T

HGVS:

• NC_000007.14:g.44144866G>A
• NG_008847.2:g.58305C>T
• NM_000162.5:c.*270C>TMANE SELECT
• NM_001354800.1:c.1369+299C>T
• NM_001354801.1:c.*270C>T
• NM_001354802.1:c.229+299C>T
• NM_001354803.2:c.*270C>T
• NM_033507.3:c.*270C>T
• NM_033508.3:c.*270C>T
• LRG_1074t1:c.*270C>T
• LRG_1074t2:c.*270C>T
• LRG_1074:g.58305C>T
• NC_000007.13:g.44184465G>A
• NM_000162.3:c.*270C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs886062348

NCBI 1000 Genomes Browser:

rs886062348

Molecular consequence:

• NM_000162.5:c.*270C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001354801.1:c.*270C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001354803.2:c.*270C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_033507.3:c.*270C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_033508.3:c.*270C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001354800.1:c.1369+299C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354802.1:c.229+299C>T - intron variant - [Sequence Ontology: SO:0001627]