ClinVar

NM_001099922.3(ALG13):c.3093A>G (p.Gln1031=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq23

Genomic location:

• ChrX: 111757707 (on Assembly GRCh38)
• ChrX: 111000935 (on Assembly GRCh37)

Preferred name:

NM_001099922.3(ALG13):c.3093A>G (p.Gln1031=)

HGVS:

• NC_000023.11:g.111757707A>G
• NG_016238.1:g.81590A>G
• NM_001099922.3:c.3093A>GMANE SELECT
• NM_001257230.2:c.2544A>G
• NM_001257231.2:c.2859A>G
• NM_001257234.2:c.2544A>G
• NM_001257237.2:c.2544A>G
• NM_001324292.2:c.2856A>G
• NM_001324293.1:c.2370A>G
• NP_001093392.1:p.Gln1031=
• NP_001244159.1:p.Gln848=
• NP_001244160.1:p.Gln953=
• NP_001244163.1:p.Gln848=
• NP_001244166.1:p.Gln848=
• NP_001311221.1:p.Gln952=
• NP_001311222.1:p.Gln790=
• NC_000023.10:g.111000935A>G
• NM_001099922.2:c.3093A>G
• NR_148693.2:n.2584A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs372260338

NCBI 1000 Genomes Browser:

rs372260338

Molecular consequence:

• NR_148693.2:n.2584A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001099922.3:c.3093A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001257230.2:c.2544A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001257231.2:c.2859A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001257234.2:c.2544A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001257237.2:c.2544A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001324292.2:c.2856A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001324293.1:c.2370A>G - synonymous variant - [Sequence Ontology: SO:0001819]