ClinVar

NM_005476.7(GNE):c.1429C>T (p.Arg477Cys)

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: 36222981 (on Assembly GRCh38)
• Chr9: 36222978 (on Assembly GRCh37)

Preferred name:

NM_005476.7(GNE):c.1429C>T (p.Arg477Cys)

HGVS:

• NC_000009.12:g.36222981G>A
• NG_008246.1:g.59064C>T
• NM_001128227.3:c.1522C>T
• NM_001190383.3:c.1411+392C>T
• NM_001190384.3:c.1099C>T
• NM_001190388.2:c.1252C>T
• NM_001374797.1:c.1276C>T
• NM_001374798.1:c.1252C>T
• NM_005476.7:c.1429C>TMANE SELECT
• NP_001121699.1:p.Arg508Cys
• NP_001177313.1:p.Arg367Cys
• NP_001177317.2:p.Arg418Cys
• NP_001361726.1:p.Arg426Cys
• NP_001361727.1:p.Arg418Cys
• NP_005467.1:p.Arg477Cys
• LRG_1197t1:c.1522C>T
• LRG_1197t2:c.1429C>T
• LRG_1197:g.59064C>T
• LRG_1197p1:p.Arg508Cys
• LRG_1197p2:p.Arg477Cys
• NC_000009.11:g.36222978G>A
• NM_001128227.2:c.1522C>T

This HGVS expression did not pass validation

Protein change:

R367C

Links:

dbSNP: rs551854437

NCBI 1000 Genomes Browser:

rs551854437

Molecular consequence:

• NM_001190383.3:c.1411+392C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001128227.3:c.1522C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001190384.3:c.1099C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001190388.2:c.1252C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374797.1:c.1276C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374798.1:c.1252C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005476.7:c.1429C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1