ClinVar

NM_005476.7(GNE):c.1634-8C>T

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: 36220028 (on Assembly GRCh38)
• Chr9: 36220025 (on Assembly GRCh37)

Preferred name:

NM_005476.7(GNE):c.1634-8C>T

HGVS:

• NC_000009.12:g.36220028G>A
• NG_008246.1:g.62017C>T
• NM_001128227.3:c.1727-8C>T
• NM_001190383.3:c.1412-8C>T
• NM_001190384.3:c.1304-8C>T
• NM_001190388.2:c.1457-8C>T
• NM_001374797.1:c.1481-8C>T
• NM_001374798.1:c.1457-8C>T
• NM_005476.7:c.1634-8C>TMANE SELECT
• LRG_1197t1:c.1727-8C>T
• LRG_1197t2:c.1634-8C>T
• LRG_1197:g.62017C>T
• NC_000009.11:g.36220025G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs756876449

NCBI 1000 Genomes Browser:

rs756876449

Molecular consequence:

• NM_001128227.3:c.1727-8C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001190383.3:c.1412-8C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001190384.3:c.1304-8C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001190388.2:c.1457-8C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001374797.1:c.1481-8C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001374798.1:c.1457-8C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_005476.7:c.1634-8C>T - intron variant - [Sequence Ontology: SO:0001627]