ClinVar

NM_001099922.3(ALG13):c.2754ACC[16] (p.Pro945dup)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

Xq23

Genomic location:

• ChrX: 111744725 - 111744726 (on Assembly GRCh38)
• ChrX: 110987953 - 110987954 (on Assembly GRCh37)

Preferred name:

NM_001099922.3(ALG13):c.2754ACC[16] (p.Pro945dup)

HGVS:

• NC_000023.11:g.111744726ACC[16]
• NG_016238.1:g.68609ACC[16]
• NM_001099922.2:c.2796_2798dupACC
• NM_001099922.3:c.2754ACC[16]MANE SELECT
• NM_001257230.2:c.2383+7847ACC[16]
• NM_001257231.2:c.2520ACC[16]
• NM_001257234.2:c.2383+7847ACC[16]
• NM_001257237.2:c.2383+7847ACC[16]
• NM_001324292.2:c.2695+7847ACC[16]
• NM_001324293.1:c.2209+7847ACC[16]
• NP_001093392.1:p.Pro945dup
• NP_001244160.1:p.Pro867dup
• NC_000023.10:g.110987953_110987954insACC
• NC_000023.10:g.110987954ACC[16]

This HGVS expression did not pass validation

Links:

dbSNP: rs750710267

NCBI 1000 Genomes Browser:

rs750710267

Molecular consequence:

• NM_001099922.3:c.2754ACC[16] - inframe_insertion - [Sequence Ontology: SO:0001821]
• NM_001257231.2:c.2520ACC[16] - inframe_insertion - [Sequence Ontology: SO:0001821]
• NM_001257230.2:c.2383+7847ACC[16] - intron variant - [Sequence Ontology: SO:0001627]
• NM_001257234.2:c.2383+7847ACC[16] - intron variant - [Sequence Ontology: SO:0001627]
• NM_001257237.2:c.2383+7847ACC[16] - intron variant - [Sequence Ontology: SO:0001627]
• NM_001324292.2:c.2695+7847ACC[16] - intron variant - [Sequence Ontology: SO:0001627]
• NM_001324293.1:c.2209+7847ACC[16] - intron variant - [Sequence Ontology: SO:0001627]

Observations:

2