ClinVar

NM_000162.5(GCK):c.208+9T>A

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

• Chr7: 44153292 (on Assembly GRCh38)
• Chr7: 44192891 (on Assembly GRCh37)

Preferred name:

NM_000162.5(GCK):c.208+9T>A

HGVS:

• NC_000007.14:g.44153292A>T
• NG_008847.2:g.49879T>A
• NM_000162.5:c.208+9T>AMANE SELECT
• NM_001354800.1:c.208+9T>A
• NM_033507.3:c.211+9T>A
• NM_033508.3:c.205+9T>A
• LRG_1074t1:c.208+9T>A
• LRG_1074t2:c.211+9T>A
• LRG_1074:g.49879T>A
• NC_000007.13:g.44192891A>T
• NC_000007.13:g.44192891A>T
• NM_000162.3:c.208+9T>A

This HGVS expression did not pass validation

Links:

dbSNP: rs193922288

NCBI 1000 Genomes Browser:

rs193922288

Molecular consequence:

• NM_000162.5:c.208+9T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354800.1:c.208+9T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_033507.3:c.211+9T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_033508.3:c.205+9T>A - intron variant - [Sequence Ontology: SO:0001627]