ClinVar

NM_000162.5(GCK):c.1268T>A (p.Phe423Tyr)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

• Chr7: 44145266 (on Assembly GRCh38)
• Chr7: 44184865 (on Assembly GRCh37)

Preferred name:

NM_000162.5(GCK):c.1268T>A (p.Phe423Tyr)

Other names:

NM_000162.5(GCK):c.1268T>A

HGVS:

• NC_000007.14:g.44145266A>T
• NG_008847.2:g.57905T>A
• NM_000162.5:c.1268T>AMANE SELECT
• NM_001354800.1:c.1268T>A
• NM_001354801.1:c.257T>A
• NM_001354802.1:c.128T>A
• NM_001354803.2:c.302T>A
• NM_033507.3:c.1271T>A
• NM_033508.3:c.1265T>A
• NP_000153.1:p.Phe423Tyr
• NP_001341729.1:p.Phe423Tyr
• NP_001341730.1:p.Phe86Tyr
• NP_001341731.1:p.Phe43Tyr
• NP_001341732.1:p.Phe101Tyr
• NP_277042.1:p.Phe424Tyr
• NP_277043.1:p.Phe422Tyr
• LRG_1074t1:c.1268T>A
• LRG_1074t2:c.1271T>A
• LRG_1074:g.57905T>A
• LRG_1074p1:p.Phe423Tyr
• LRG_1074p2:p.Phe424Tyr
• NC_000007.13:g.44184865A>T
• NM_000162.3:c.1268T>A

This HGVS expression did not pass validation

Protein change:

F101Y

Links:

dbSNP: rs193922273

NCBI 1000 Genomes Browser:

rs193922273

Molecular consequence:

• NM_000162.5:c.1268T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354800.1:c.1268T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354801.1:c.257T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354802.1:c.128T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354803.2:c.302T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_033507.3:c.1271T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_033508.3:c.1265T>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

3