ClinVar

NM_000162.5(GCK):c.1219G>A (p.Gly407Ser)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

• Chr7: 44145531 (on Assembly GRCh38)
• Chr7: 44185130 (on Assembly GRCh37)

Preferred name:

NM_000162.5(GCK):c.1219G>A (p.Gly407Ser)

HGVS:

• NC_000007.14:g.44145531C>T
• NG_008847.2:g.57640G>A
• NM_000162.5:c.1219G>AMANE SELECT
• NM_001354800.1:c.1219G>A
• NM_001354801.1:c.208G>A
• NM_001354802.1:c.79G>A
• NM_001354803.2:c.253G>A
• NM_033507.3:c.1222G>A
• NM_033508.3:c.1216G>A
• NP_000153.1:p.Gly407Ser
• NP_001341729.1:p.Gly407Ser
• NP_001341730.1:p.Gly70Ser
• NP_001341731.1:p.Gly27Ser
• NP_001341732.1:p.Gly85Ser
• NP_277042.1:p.Gly408Ser
• NP_277043.1:p.Gly406Ser
• LRG_1074t1:c.1219G>A
• LRG_1074t2:c.1222G>A
• LRG_1074:g.57640G>A
• LRG_1074p1:p.Gly407Ser
• LRG_1074p2:p.Gly408Ser
• NC_000007.13:g.44185130C>T
• NC_000007.13:g.44185130C>T
• NM_000162.3:c.1219G>A

This HGVS expression did not pass validation

Protein change:

G27S

Links:

dbSNP: rs2096271295

NCBI 1000 Genomes Browser:

rs2096271295

Molecular consequence:

• NM_000162.5:c.1219G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354800.1:c.1219G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354801.1:c.208G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354802.1:c.79G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354803.2:c.253G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_033507.3:c.1222G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_033508.3:c.1216G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1