ClinVar

NM_005476.7(GNE):c.616G>A (p.Gly206Ser)

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: 36246031 (on Assembly GRCh38)
• Chr9: 36246028 (on Assembly GRCh37)

Preferred name:

NM_005476.7(GNE):c.616G>A (p.Gly206Ser)

HGVS:

• NC_000009.12:g.36246031C>T
• NG_008246.1:g.36014G>A
• NM_001128227.2:c.709G>A
• NM_001128227.3:c.709G>A
• NM_001190383.3:c.616G>A
• NM_001190384.3:c.439G>A
• NM_001190388.2:c.439G>A
• NM_001374797.1:c.616G>A
• NM_001374798.1:c.439G>A
• NM_005476.7:c.616G>AMANE SELECT
• NP_001121699.1:p.Gly237Ser
• NP_001177312.1:p.Gly206Ser
• NP_001177313.1:p.Gly147Arg
• NP_001177317.2:p.Gly147Ser
• NP_001361726.1:p.Gly206Arg
• NP_001361727.1:p.Gly147Ser
• NP_005467.1:p.Gly206Ser
• LRG_1197t1:c.709G>A
• LRG_1197t2:c.616G>A
• LRG_1197:g.36014G>A
• LRG_1197p1:p.Gly237Ser
• LRG_1197p2:p.Gly206Ser
• NC_000009.11:g.36246028C>T

This HGVS expression did not pass validation

Protein change:

G147R

Links:

dbSNP: rs766266918

NCBI 1000 Genomes Browser:

rs766266918

Molecular consequence:

• NM_001128227.3:c.709G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001190383.3:c.616G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001190384.3:c.439G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001190388.2:c.439G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374797.1:c.616G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374798.1:c.439G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_005476.7:c.616G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1