ClinVar

NM_000162.5(GCK):c.1288C>T (p.Leu430=)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

• Chr7: 44145246 (on Assembly GRCh38)
• Chr7: 44184845 (on Assembly GRCh37)

Preferred name:

NM_000162.5(GCK):c.1288C>T (p.Leu430=)

HGVS:

• NC_000007.14:g.44145246G>A
• NG_008847.2:g.57925C>T
• NM_000162.5:c.1288C>TMANE SELECT
• NM_001354800.1:c.1288C>T
• NM_001354801.1:c.277C>T
• NM_001354802.1:c.148C>T
• NM_001354803.1:c.322C>T
• NM_033507.3:c.1291C>T
• NM_033508.3:c.1285C>T
• NP_000153.1:p.Leu430=
• NP_001341729.1:p.Leu430=
• NP_001341730.1:p.Leu93=
• NP_001341731.1:p.Leu50=
• NP_001341732.1:p.Leu108=
• NP_277042.1:p.Leu431=
• NP_277043.1:p.Leu429=
• LRG_1074t1:c.1288C>T
• LRG_1074t2:c.1291C>T
• LRG_1074:g.57925C>T
• LRG_1074p1:p.Leu430=
• LRG_1074p2:p.Leu431=
• NC_000007.13:g.44184845G>A
• NM_000162.3:c.1288C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs193922276

NCBI 1000 Genomes Browser:

rs193922276

Molecular consequence:

• NM_000162.5:c.1288C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354800.1:c.1288C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354801.1:c.277C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354802.1:c.148C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354803.1:c.322C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_033507.3:c.1291C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_033508.3:c.1285C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1