ClinVar

NM_001099922.3(ALG13):c.1869C>T (p.His623=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq23

Genomic location:

• ChrX: 111726948 (on Assembly GRCh38)
• ChrX: 110970176 (on Assembly GRCh37)

Preferred name:

NM_001099922.3(ALG13):c.1869C>T (p.His623=)

HGVS:

• NC_000023.11:g.111726948C>T
• NG_016238.1:g.50831C>T
• NM_001099922.3:c.1869C>TMANE SELECT
• NM_001257230.2:c.1557C>T
• NM_001257231.2:c.1635C>T
• NM_001257234.2:c.1557C>T
• NM_001257237.2:c.1557C>T
• NM_001324292.2:c.1869C>T
• NM_001324293.1:c.1383C>T
• NP_001093392.1:p.His623=
• NP_001244159.1:p.His519=
• NP_001244160.1:p.His545=
• NP_001244163.1:p.His519=
• NP_001244166.1:p.His519=
• NP_001311221.1:p.His623=
• NP_001311222.1:p.His461=
• NC_000023.10:g.110970176C>T
• NM_001099922.2:c.1869C>T
• NR_148693.2:n.1597C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs747208594

NCBI 1000 Genomes Browser:

rs747208594

Molecular consequence:

• NR_148693.2:n.1597C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001099922.3:c.1869C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001257230.2:c.1557C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001257231.2:c.1635C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001257234.2:c.1557C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001257237.2:c.1557C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001324292.2:c.1869C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001324293.1:c.1383C>T - synonymous variant - [Sequence Ontology: SO:0001819]