ClinVar

NM_000162.5(GCK):c.1289T>C (p.Leu430Pro)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

• Chr7: 44145245 (on Assembly GRCh38)
• Chr7: 44184844 (on Assembly GRCh37)

Preferred name:

NM_000162.5(GCK):c.1289T>C (p.Leu430Pro)

Other names:

NM_000162.5(GCK):c.1289T>C

HGVS:

• NC_000007.14:g.44145245A>G
• NG_008847.2:g.57926T>C
• NM_000162.5:c.1289T>CMANE SELECT
• NM_001354800.1:c.1289T>C
• NM_001354801.1:c.278T>C
• NM_001354802.1:c.149T>C
• NM_001354803.2:c.323T>C
• NM_033507.3:c.1292T>C
• NM_033508.3:c.1286T>C
• NP_000153.1:p.Leu430Pro
• NP_001341729.1:p.Leu430Pro
• NP_001341730.1:p.Leu93Pro
• NP_001341731.1:p.Leu50Pro
• NP_001341732.1:p.Leu108Pro
• NP_277042.1:p.Leu431Pro
• NP_277043.1:p.Leu429Pro
• LRG_1074t1:c.1289T>C
• LRG_1074t2:c.1292T>C
• LRG_1074:g.57926T>C
• LRG_1074p1:p.Leu430Pro
• LRG_1074p2:p.Leu431Pro
• NC_000007.13:g.44184844A>G
• NM_000162.3:c.1289T>C

This HGVS expression did not pass validation

Protein change:

L108P

Links:

dbSNP: rs193922277

NCBI 1000 Genomes Browser:

rs193922277

Molecular consequence:

• NM_000162.5:c.1289T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354800.1:c.1289T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354801.1:c.278T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354802.1:c.149T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354803.2:c.323T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_033507.3:c.1292T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_033508.3:c.1286T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1