ClinVar

NM_005476.7(GNE):c.1467C>T (p.Thr489=)

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: 36222943 (on Assembly GRCh38)
• Chr9: 36222940 (on Assembly GRCh37)

Preferred name:

NM_005476.7(GNE):c.1467C>T (p.Thr489=)

HGVS:

• NC_000009.12:g.36222943G>A
• NG_008246.1:g.59102C>T
• NM_001128227.3:c.1560C>T
• NM_001190383.3:c.1411+430C>T
• NM_001190384.3:c.1137C>T
• NM_001190388.2:c.1290C>T
• NM_001374797.1:c.1314C>T
• NM_001374798.1:c.1290C>T
• NM_005476.7:c.1467C>TMANE SELECT
• NP_001121699.1:p.Thr520=
• NP_001177313.1:p.Thr379=
• NP_001177317.2:p.Thr430=
• NP_001361726.1:p.Thr438=
• NP_001361727.1:p.Thr430=
• NP_005467.1:p.Thr489=
• LRG_1197t1:c.1560C>T
• LRG_1197t2:c.1467C>T
• LRG_1197:g.59102C>T
• LRG_1197p1:p.Thr520=
• LRG_1197p2:p.Thr489=
• NC_000009.11:g.36222940G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1235105944

NCBI 1000 Genomes Browser:

rs1235105944

Molecular consequence:

• NM_001190383.3:c.1411+430C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001128227.3:c.1560C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001190384.3:c.1137C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001190388.2:c.1290C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374797.1:c.1314C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374798.1:c.1290C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_005476.7:c.1467C>T - synonymous variant - [Sequence Ontology: SO:0001819]