ClinVar

NM_001099922.3(ALG13):c.2915G>T (p.Gly972Val)

Gene:

ALG13:ALG13 UDP-N-acetylglucosaminyltransferase subunit [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq23

Genomic location:

• ChrX: 111744887 (on Assembly GRCh38)
• ChrX: 110988115 (on Assembly GRCh37)

Preferred name:

NM_001099922.3(ALG13):c.2915G>T (p.Gly972Val)

HGVS:

• NC_000023.11:g.111744887G>T
• NG_016238.1:g.68770G>T
• NM_001099922.3:c.2915G>TMANE SELECT
• NM_001257230.2:c.2384-7903G>T
• NM_001257231.2:c.2681G>T
• NM_001257234.2:c.2384-7903G>T
• NM_001257237.2:c.2384-7903G>T
• NM_001324292.2:c.2696-7903G>T
• NM_001324293.1:c.2210-7903G>T
• NP_001093392.1:p.Gly972Val
• NP_001244160.1:p.Gly894Val
• NC_000023.10:g.110988115G>T
• NM_001099922.2:c.2915G>T

This HGVS expression did not pass validation

Protein change:

G894V

Links:

dbSNP: rs2148407095

NCBI 1000 Genomes Browser:

rs2148407095

Molecular consequence:

• NM_001257230.2:c.2384-7903G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001257234.2:c.2384-7903G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001257237.2:c.2384-7903G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001324292.2:c.2696-7903G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001324293.1:c.2210-7903G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001099922.3:c.2915G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257231.2:c.2681G>T - missense variant - [Sequence Ontology: SO:0001583]