ClinVar

NM_000162.5(GCK):c.1242G>T (p.Lys414Asn)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

• Chr7: 44145508 (on Assembly GRCh38)
• Chr7: 44185107 (on Assembly GRCh37)

Preferred name:

NM_000162.5(GCK):c.1242G>T (p.Lys414Asn)

HGVS:

• NC_000007.14:g.44145508C>A
• NG_008847.2:g.57663G>T
• NM_000162.5:c.1242G>TMANE SELECT
• NM_001354800.1:c.1242G>T
• NM_001354801.1:c.231G>T
• NM_001354802.1:c.102G>T
• NM_001354803.2:c.276G>T
• NM_033507.3:c.1245G>T
• NM_033508.3:c.1239G>T
• NP_000153.1:p.Lys414Asn
• NP_001341729.1:p.Lys414Asn
• NP_001341730.1:p.Lys77Asn
• NP_001341731.1:p.Lys34Asn
• NP_001341732.1:p.Lys92Asn
• NP_277042.1:p.Lys415Asn
• NP_277043.1:p.Lys413Asn
• LRG_1074t1:c.1242G>T
• LRG_1074t2:c.1245G>T
• LRG_1074:g.57663G>T
• LRG_1074p1:p.Lys414Asn
• LRG_1074p2:p.Lys415Asn
• NC_000007.13:g.44185107C>A
• NM_000162.3:c.1242G>T

This HGVS expression did not pass validation

Protein change:

K34N

Molecular consequence:

• NM_000162.5:c.1242G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354800.1:c.1242G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354801.1:c.231G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354802.1:c.102G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354803.2:c.276G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_033507.3:c.1245G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_033508.3:c.1239G>T - missense variant - [Sequence Ontology: SO:0001583]