ClinVar

NM_005476.7(GNE):c.1798G>A (p.Ala600Thr)

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: 36219856 (on Assembly GRCh38)
• Chr9: 36219853 (on Assembly GRCh37)

Preferred name:

NM_005476.7(GNE):c.1798G>A (p.Ala600Thr)

HGVS:

• NC_000009.12:g.36219856C>T
• NG_008246.1:g.62189G>A
• NM_001128227.3:c.1891G>A
• NM_001190383.3:c.1576G>A
• NM_001190384.3:c.1468G>A
• NM_001190388.2:c.1621G>A
• NM_001374797.1:c.1645G>A
• NM_001374798.1:c.1621G>A
• NM_005476.7:c.1798G>AMANE SELECT
• NP_001121699.1:p.Ala631Thr
• NP_001177312.1:p.Ala526Thr
• NP_001177313.1:p.Ala490Thr
• NP_001177317.2:p.Ala541Thr
• NP_001361726.1:p.Ala549Thr
• NP_001361727.1:p.Ala541Thr
• NP_005467.1:p.Ala600Thr
• LRG_1197t1:c.1891G>A
• LRG_1197t2:c.1798G>A
• LRG_1197:g.62189G>A
• LRG_1197p1:p.Ala631Thr
• LRG_1197p2:p.Ala600Thr
• NC_000009.11:g.36219853C>T
• NM_001128227.2:c.1891G>A

This HGVS expression did not pass validation

Protein change:

A490T

Links:

dbSNP: rs387906347

NCBI 1000 Genomes Browser:

rs387906347

Molecular consequence:

• NM_001128227.3:c.1891G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001190383.3:c.1576G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001190384.3:c.1468G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001190388.2:c.1621G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374797.1:c.1645G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374798.1:c.1621G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_005476.7:c.1798G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1