ClinVar

NM_001099922.3(ALG13):c.1217C>T (p.Ala406Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq23

Genomic location:

• ChrX: 111718241 (on Assembly GRCh38)
• ChrX: 110961469 (on Assembly GRCh37)

Preferred name:

NM_001099922.3(ALG13):c.1217C>T (p.Ala406Val)

HGVS:

• NC_000023.11:g.111718241C>T
• NG_016238.1:g.42124C>T
• NM_001099922.3:c.1217C>TMANE SELECT
• NM_001257230.2:c.905C>T
• NM_001257231.2:c.983C>T
• NM_001257234.2:c.905C>T
• NM_001257237.2:c.905C>T
• NM_001324292.2:c.1217C>T
• NM_001324293.1:c.905C>T
• NP_001093392.1:p.Ala406Val
• NP_001244159.1:p.Ala302Val
• NP_001244160.1:p.Ala328Val
• NP_001244163.1:p.Ala302Val
• NP_001244166.1:p.Ala302Val
• NP_001311221.1:p.Ala406Val
• NP_001311222.1:p.Ala302Val
• NC_000023.10:g.110961469C>T
• NM_001099922.2:c.1217C>T
• NM_001257230.1:c.905C>T
• NR_148693.2:n.1220C>T

This HGVS expression did not pass validation

Protein change:

A302V

Links:

dbSNP: rs1057522541

NCBI 1000 Genomes Browser:

rs1057522541

Molecular consequence:

• NM_001099922.3:c.1217C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257230.2:c.905C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257231.2:c.983C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257234.2:c.905C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257237.2:c.905C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001324292.2:c.1217C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001324293.1:c.905C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_148693.2:n.1220C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]