ClinVar

NM_000162.5(GCK):c.1099G>T (p.Val367Leu)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

• Chr7: 44145651 (on Assembly GRCh38)
• Chr7: 44185250 (on Assembly GRCh37)

Preferred name:

NM_000162.5(GCK):c.1099G>T (p.Val367Leu)

Other names:

NM_001354803.2:c.133G>T

HGVS:

• NC_000007.14:g.44145651C>A
• NG_008847.2:g.57520G>T
• NM_000162.5:c.1099G>TMANE SELECT
• NM_001354800.1:c.1099G>T
• NM_001354801.1:c.88G>T
• NM_001354802.1:c.-42G>T
• NM_001354803.2:c.133G>T
• NM_033507.3:c.1102G>T
• NM_033508.3:c.1096G>T
• NP_000153.1:p.Val367Leu
• NP_001341729.1:p.Val367Leu
• NP_001341730.1:p.Val30Leu
• NP_001341732.1:p.Val45Leu
• NP_277042.1:p.Val368Leu
• NP_277043.1:p.Val366Leu
• LRG_1074t1:c.1099G>T
• LRG_1074t2:c.1102G>T
• LRG_1074:g.57520G>T
• LRG_1074p1:p.Val367Leu
• LRG_1074p2:p.Val368Leu
• NC_000007.13:g.44185250C>A

This HGVS expression did not pass validation

Protein change:

V30L

Molecular consequence:

• NM_001354802.1:c.-42G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000162.5:c.1099G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354800.1:c.1099G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354801.1:c.88G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354803.2:c.133G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_033507.3:c.1102G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_033508.3:c.1096G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1