ClinVar

NM_005476.7(GNE):c.1412G>A (p.Gly471Asp)

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: 36222998 (on Assembly GRCh38)
• Chr9: 36222995 (on Assembly GRCh37)

Preferred name:

NM_005476.7(GNE):c.1412G>A (p.Gly471Asp)

HGVS:

• NC_000009.12:g.36222998C>T
• NG_008246.1:g.59047G>A
• NM_001128227.3:c.1505G>A
• NM_001190383.3:c.1411+375G>A
• NM_001190384.3:c.1082G>A
• NM_001190388.2:c.1235G>A
• NM_001374797.1:c.1259G>A
• NM_001374798.1:c.1235G>A
• NM_005476.7:c.1412G>AMANE SELECT
• NP_001121699.1:p.Gly502Asp
• NP_001177313.1:p.Gly361Asp
• NP_001177317.2:p.Gly412Asp
• NP_001361726.1:p.Gly420Asp
• NP_001361727.1:p.Gly412Asp
• NP_005467.1:p.Gly471Asp
• LRG_1197t1:c.1505G>A
• LRG_1197t2:c.1412G>A
• LRG_1197:g.59047G>A
• LRG_1197p1:p.Gly502Asp
• LRG_1197p2:p.Gly471Asp
• NC_000009.11:g.36222995C>T

This HGVS expression did not pass validation

Protein change:

G361D

Links:

dbSNP: rs1439999698

NCBI 1000 Genomes Browser:

rs1439999698

Molecular consequence:

• NM_001190383.3:c.1411+375G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001128227.3:c.1505G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001190384.3:c.1082G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001190388.2:c.1235G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374797.1:c.1259G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374798.1:c.1235G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_005476.7:c.1412G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1