ClinVar

NM_000162.5(GCK):c.253A>T (p.Arg85Trp)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

• Chr7: 44152381 (on Assembly GRCh38)
• Chr7: 44191980 (on Assembly GRCh37)

Preferred name:

NM_000162.5(GCK):c.253A>T (p.Arg85Trp)

HGVS:

• NC_000007.14:g.44152381T>A
• NG_008847.2:g.50790A>T
• NM_000162.5:c.253A>TMANE SELECT
• NM_001354800.1:c.253A>T
• NM_033507.3:c.256A>T
• NM_033508.3:c.250A>T
• NP_000153.1:p.Arg85Trp
• NP_001341729.1:p.Arg85Trp
• NP_277042.1:p.Arg86Trp
• NP_277043.1:p.Arg84Trp
• LRG_1074t1:c.253A>T
• LRG_1074t2:c.256A>T
• LRG_1074:g.50790A>T
• LRG_1074p1:p.Arg85Trp
• LRG_1074p2:p.Arg86Trp
• NC_000007.13:g.44191980T>A
• NM_000162.3:c.253A>T

This HGVS expression did not pass validation

Protein change:

R84W

Links:

dbSNP: rs193922290

NCBI 1000 Genomes Browser:

rs193922290

Molecular consequence:

• NM_000162.5:c.253A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354800.1:c.253A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_033507.3:c.256A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_033508.3:c.250A>T - missense variant - [Sequence Ontology: SO:0001583]