ClinVar

NM_000162.5(GCK):c.1285A>C (p.Arg429=)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

• Chr7: 44145249 (on Assembly GRCh38)
• Chr7: 44184848 (on Assembly GRCh37)

Preferred name:

NM_000162.5(GCK):c.1285A>C (p.Arg429=)

Other names:

NM_000162.5(GCK):c.1285A>C; p.Arg429=

HGVS:

• NC_000007.14:g.44145249T>G
• NG_008847.2:g.57922A>C
• NM_000162.5:c.1285A>CMANE SELECT
• NM_001354800.1:c.1285A>C
• NM_001354801.1:c.274A>C
• NM_001354802.1:c.145A>C
• NM_001354803.2:c.319A>C
• NM_033507.3:c.1288A>C
• NM_033508.3:c.1282A>C
• NP_000153.1:p.Arg429=
• NP_001341729.1:p.Arg429=
• NP_001341730.1:p.Arg92=
• NP_001341731.1:p.Arg49=
• NP_001341732.1:p.Arg107=
• NP_277042.1:p.Arg430=
• NP_277043.1:p.Arg428=
• LRG_1074t1:c.1285A>C
• LRG_1074t2:c.1288A>C
• LRG_1074:g.57922A>C
• LRG_1074p1:p.Arg429=
• LRG_1074p2:p.Arg430=
• NC_000007.13:g.44184848T>G
• NM_000162.3:c.1285A>C

This HGVS expression did not pass validation

Links:

dbSNP: rs140672134

NCBI 1000 Genomes Browser:

rs140672134

Molecular consequence:

• NM_000162.5:c.1285A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354800.1:c.1285A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354801.1:c.274A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354802.1:c.145A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354803.2:c.319A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_033507.3:c.1288A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_033508.3:c.1282A>C - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1