ClinVar

NM_000162.5(GCK):c.1264C>T (p.Arg422Trp)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

• Chr7: 44145270 (on Assembly GRCh38)
• Chr7: 44184869 (on Assembly GRCh37)

Preferred name:

NM_000162.5(GCK):c.1264C>T (p.Arg422Trp)

HGVS:

• NC_000007.14:g.44145270G>A
• NG_008847.2:g.57901C>T
• NM_000162.5:c.1264C>TMANE SELECT
• NM_001354800.1:c.1264C>T
• NM_001354801.1:c.253C>T
• NM_001354802.1:c.124C>T
• NM_001354803.2:c.298C>T
• NM_033507.3:c.1267C>T
• NM_033508.3:c.1261C>T
• NP_000153.1:p.Arg422Trp
• NP_001341729.1:p.Arg422Trp
• NP_001341730.1:p.Arg85Trp
• NP_001341731.1:p.Arg42Trp
• NP_001341732.1:p.Arg100Trp
• NP_277042.1:p.Arg423Trp
• NP_277043.1:p.Arg421Trp
• LRG_1074t1:c.1264C>T
• LRG_1074t2:c.1267C>T
• LRG_1074:g.57901C>T
• LRG_1074p1:p.Arg422Trp
• LRG_1074p2:p.Arg423Trp
• NC_000007.13:g.44184869G>A
• NM_000162.3:c.1264C>T

This HGVS expression did not pass validation

Protein change:

R100W

Molecular consequence:

• NM_000162.5:c.1264C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354800.1:c.1264C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354801.1:c.253C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354802.1:c.124C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354803.2:c.298C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_033507.3:c.1267C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_033508.3:c.1261C>T - missense variant - [Sequence Ontology: SO:0001583]