ClinVar

NM_005476.7(GNE):c.1413C>T (p.Gly471=)

Gene:

GNE:glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9p13.3

Genomic location:

• Chr9: 36222997 (on Assembly GRCh38)
• Chr9: 36222994 (on Assembly GRCh37)

Preferred name:

NM_005476.7(GNE):c.1413C>T (p.Gly471=)

HGVS:

• NC_000009.12:g.36222997G>A
• NG_008246.1:g.59048C>T
• NM_001128227.3:c.1506C>T
• NM_001190383.3:c.1411+376C>T
• NM_001190384.3:c.1083C>T
• NM_001190388.2:c.1236C>T
• NM_001374797.1:c.1260C>T
• NM_001374798.1:c.1236C>T
• NM_005476.7:c.1413C>TMANE SELECT
• NP_001121699.1:p.Gly502=
• NP_001177313.1:p.Gly361=
• NP_001177317.2:p.Gly412=
• NP_001361726.1:p.Gly420=
• NP_001361727.1:p.Gly412=
• NP_005467.1:p.Gly471=
• LRG_1197t1:c.1506C>T
• LRG_1197t2:c.1413C>T
• LRG_1197:g.59048C>T
• LRG_1197p1:p.Gly502=
• LRG_1197p2:p.Gly471=
• NC_000009.11:g.36222994G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs142836733

NCBI 1000 Genomes Browser:

rs142836733

Molecular consequence:

• NM_001190383.3:c.1411+376C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001128227.3:c.1506C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001190384.3:c.1083C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001190388.2:c.1236C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374797.1:c.1260C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374798.1:c.1236C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_005476.7:c.1413C>T - synonymous variant - [Sequence Ontology: SO:0001819]