ClinVar

NM_001099922.3(ALG13):c.2369G>A (p.Gly790Glu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq23

Genomic location:

• ChrX: 111730395 (on Assembly GRCh38)
• ChrX: 110973623 (on Assembly GRCh37)

Preferred name:

NM_001099922.3(ALG13):c.2369G>A (p.Gly790Glu)

HGVS:

• NC_000023.11:g.111730395G>A
• NG_016238.1:g.54278G>A
• NM_001099922.3:c.2369G>AMANE SELECT
• NM_001257230.2:c.2057G>A
• NM_001257231.2:c.2135G>A
• NM_001257234.2:c.2057G>A
• NM_001257237.2:c.2057G>A
• NM_001324292.2:c.2369G>A
• NM_001324293.1:c.1883G>A
• NP_001093392.1:p.Gly790Glu
• NP_001244159.1:p.Gly686Glu
• NP_001244160.1:p.Gly712Glu
• NP_001244163.1:p.Gly686Glu
• NP_001244166.1:p.Gly686Glu
• NP_001311221.1:p.Gly790Glu
• NP_001311222.1:p.Gly628Glu
• NC_000023.10:g.110973623G>A
• NM_001099922.2:c.2369G>A
• NM_001257230.1:c.2057G>A
• NR_148693.2:n.2097G>A

This HGVS expression did not pass validation

Protein change:

G628E

Links:

dbSNP: rs745411126

NCBI 1000 Genomes Browser:

rs745411126

Molecular consequence:

• NM_001099922.3:c.2369G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257230.2:c.2057G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257231.2:c.2135G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257234.2:c.2057G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257237.2:c.2057G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001324292.2:c.2369G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001324293.1:c.1883G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_148693.2:n.2097G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]