ClinVar

NM_012200.4(B3GAT3):c.245C>T (p.Pro82Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q12.3

Genomic location:

• Chr11: 62620509 (on Assembly GRCh38)
• Chr11: 62387981 (on Assembly GRCh37)

Preferred name:

NM_012200.4(B3GAT3):c.245C>T (p.Pro82Leu)

HGVS:

• NC_000011.10:g.62620509G>A
• NG_031863.1:g.6667C>T
• NM_001288721.2:c.224C>T
• NM_001288722.2:c.245C>T
• NM_001288723.2:c.245C>T
• NM_012200.4:c.245C>TMANE SELECT
• NP_001275650.1:p.Pro75Leu
• NP_001275651.1:p.Pro82Leu
• NP_001275652.1:p.Pro82Leu
• NP_036332.2:p.Pro82Leu
• NC_000011.9:g.62387981G>A
• NR_109991.2:n.274C>T

This HGVS expression did not pass validation

Protein change:

P75L

Links:

dbSNP: rs755601885

NCBI 1000 Genomes Browser:

rs755601885

Molecular consequence:

• NM_001288721.2:c.224C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001288722.2:c.245C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001288723.2:c.245C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_012200.4:c.245C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_109991.2:n.274C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]