ClinVar

NM_005476.7(GNE):c.80C>T (p.Pro27Leu)

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: 36249276 (on Assembly GRCh38)
• Chr9: 36249273 (on Assembly GRCh37)

Preferred name:

NM_005476.7(GNE):c.80C>T (p.Pro27Leu)

HGVS:

• NC_000009.12:g.36249276G>A
• NG_008246.1:g.32769C>T
• NM_001128227.3:c.173C>T
• NM_001190383.3:c.80C>T
• NM_001190384.3:c.-13-2794C>T
• NM_001190388.2:c.-13-2794C>T
• NM_001374797.1:c.80C>T
• NM_001374798.1:c.-13-2794C>T
• NM_005476.7:c.80C>TMANE SELECT
• NP_001121699.1:p.Pro58Leu
• NP_001177312.1:p.Pro27Leu
• NP_001361726.1:p.Pro27Leu
• NP_005467.1:p.Pro27Leu
• LRG_1197t1:c.173C>T
• LRG_1197t2:c.80C>T
• LRG_1197:g.32769C>T
• LRG_1197p1:p.Pro58Leu
• LRG_1197p2:p.Pro27Leu
• NC_000009.11:g.36249273G>A
• NM_001128227.2:c.173C>T

This HGVS expression did not pass validation

Protein change:

P27L

Links:

dbSNP: rs1236647498

NCBI 1000 Genomes Browser:

rs1236647498

Molecular consequence:

• NM_001190384.3:c.-13-2794C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001190388.2:c.-13-2794C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001374798.1:c.-13-2794C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001128227.3:c.173C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001190383.3:c.80C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374797.1:c.80C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005476.7:c.80C>T - missense variant - [Sequence Ontology: SO:0001583]