ClinVar

NM_012200.4(B3GAT3):c.666C>T (p.Gly222=)

Gene:

B3GAT3:beta-1,3-glucuronyltransferase 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q12.3

Genomic location:

• Chr11: 62616749 (on Assembly GRCh38)
• Chr11: 62384221 (on Assembly GRCh37)

Preferred name:

NM_012200.4(B3GAT3):c.666C>T (p.Gly222=)

HGVS:

• NC_000011.10:g.62616749G>A
• NG_009845.1:g.9009G>A
• NG_031863.1:g.10427C>T
• NM_001288721.2:c.645C>T
• NM_001288722.2:c.666C>T
• NM_001288723.2:c.666C>T
• NM_012200.4:c.666C>TMANE SELECT
• NP_001275650.1:p.Gly215=
• NP_001275651.1:p.Gly222=
• NP_001275652.1:p.Gly222=
• NP_036332.2:p.Gly222=
• NC_000011.9:g.62384221G>A
• NR_109991.2:n.695C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs752300927

NCBI 1000 Genomes Browser:

rs752300927

Molecular consequence:

• NR_109991.2:n.695C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001288721.2:c.645C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001288722.2:c.666C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001288723.2:c.666C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_012200.4:c.666C>T - synonymous variant - [Sequence Ontology: SO:0001819]