ClinVar

NM_005476.7(GNE):c.329A>G (p.His110Arg)

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: 36246318 (on Assembly GRCh38)
• Chr9: 36246315 (on Assembly GRCh37)

Preferred name:

NM_005476.7(GNE):c.329A>G (p.His110Arg)

HGVS:

• NC_000009.12:g.36246318T>C
• NG_008246.1:g.35727A>G
• NM_001128227.3:c.422A>G
• NM_001190383.3:c.329A>G
• NM_001190384.3:c.152A>G
• NM_001190388.2:c.152A>G
• NM_001374797.1:c.329A>G
• NM_001374798.1:c.152A>G
• NM_005476.7:c.329A>GMANE SELECT
• NP_001121699.1:p.His141Arg
• NP_001177312.1:p.His110Arg
• NP_001177313.1:p.His51Arg
• NP_001177317.2:p.His51Arg
• NP_001361726.1:p.His110Arg
• NP_001361727.1:p.His51Arg
• NP_005467.1:p.His110Arg
• LRG_1197t1:c.422A>G
• LRG_1197t2:c.329A>G
• LRG_1197:g.35727A>G
• LRG_1197p1:p.His141Arg
• LRG_1197p2:p.His110Arg
• NC_000009.11:g.36246315T>C

This HGVS expression did not pass validation

Protein change:

H110R

Links:

dbSNP: rs886043739

NCBI 1000 Genomes Browser:

rs886043739

Molecular consequence:

• NM_001128227.3:c.422A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001190383.3:c.329A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001190384.3:c.152A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001190388.2:c.152A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374797.1:c.329A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374798.1:c.152A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_005476.7:c.329A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1